TNNT2 (Troponin T, cardiac muscle) variants and mutations
TNNT2 (also known as Troponin T, cardiac muscle) is a human protein-coding gene encoding a troponin T, cardiac muscle protein. It anchors the cardiac troponin complex to tropomyosin and helps translate calcium-dependent conformational changes into controlled actin-myosin interaction. Pathogenic variants can cause hypertrophic, dilated, or restrictive cardiomyopathy and alter arrhythmic risk. This analysis covers 566 TNNT2 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy, left ventricular noncompaction, and hypertrophic cardiomyopathy 2. Example TNNT2 variants include M1I, M1V, and S2F.
Variant analysis overview
- Gene: TNNT2
- Protein: Troponin T, cardiac muscle
- UniProt accession: P45379
- Organism: Homo sapiens
- Variants analyzed: 566
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 435 unspecified-consequence records; 24 synonymous variants; 80 missense variants; 3 in-frame deletions; 8 frameshift variants; 1 stop lost; 7 stop-gained variants; 1 in-frame insertions; 2 splice-region variants; 5 substitution
- Prediction scores: 512 variants have prediction scores (90% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy, left ventricular noncompaction, hypertrophic cardiomyopathy 2, cardiomyopathy, familial restrictive, 3, familial isolated dilated cardiomyopathy, dilated cardiomyopathy, familial isolated restrictive cardiomyopathy, cardiomyopathy, Abnormality of the cardiovascular system, Rare familial disorder with hypertrophic cardiomyopathy, familial hypertrophic cardiomyopathy, heart failure.
Protein structure and variant hotspots
- Protein features: 6 post-translational modification sites.
- PTM context: 10 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable TNNT2 variants
Examples include M1I, M1V, S2F, S2P, D3N, I4L, I4M, I4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1289914935, ClinGen CA344209130, ClinVar RCV000656211, ClinVar RCV001508034, MetaLR 0.27, MetaSVM -0.48, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2
- M1V (p.Met1Val), rs1228403814, ClinGen CA344209142, ClinVar RCV001001994, ClinVar RCV001044653, MetaLR 0.98, MetaSVM 1.06, Conflicting interpretations, not specified; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive
- S2F (p.Ser2Phe), rs981844273, ClinGen CA35432771, ClinVar RCV001185605, Ensembl rs981844273, AlphaMissense 0.66, MetaLR 0.96, Uncertain significance, Cardiomyopathy
- S2P (p.Ser2Pro), rs765584396, ClinGen CA029269, ClinVar RCV001186570, ClinVar RCV003770082, CADD 28.60, PolyPhen-2 0.99, Uncertain significance, Cardiovascular phenotype; not provided; Cardiomyopathy
- D3N (p.Asp3Asn), cosmic curated COSV10510, Ensembl rs1321549410
- I4L (p.Ile4Leu), rs139705141, ClinGen CA026513, ClinVar RCV000523110, ClinVar RCV000692553, CADD 4.22, PolyPhen-2 0.00, Uncertain significance, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2
- I4M (p.Ile4Met), rs2102317005, ClinGen CA344209074, ClinVar RCV004015904, ClinVar RCV006373194, AlphaMissense 0.08, MetaLR 0.89, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy
- I4V (p.Ile4Val), rs139705141, ClinGen CA344209079, ClinVar RCV000693893, ESP rs139705141, CADD 1.43, PolyPhen-2 0.00, Uncertain significance, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- E5G (p.Glu5Gly), gnomAD rs1660923710, CADD 32.00
- E6D (p.Glu6Asp), TOPMed rs1660923349, CADD 19.60, PolyPhen-2 0.00
- E6K (p.Glu6Lys), rs2102316961, ClinGen CA344209055, ClinVar RCV001524131, Ensembl rs2102316961, AlphaMissense 0.37, MetaLR 0.92, Uncertain significance, Cardiomyopathy
- V7A (p.Val7Ala), rs970498944, ClinGen CA35432770, ClinVar RCV002038749, TOPMed rs970498944, CADD 14.20, PolyPhen-2 0.00, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- V8M (p.Val8Met), gnomAD rs1480556319, CADD 17.40, PolyPhen-2 0.01
- E9Q (p.Glu9Gln), TOPMed rs1202003575, gnomAD rs1202003575, CADD 22.10, Uncertain significance, Cardiomyopathy
- E12G (p.Glu12Gly), gnomAD rs1261852554, CADD 33.00, PolyPhen-2 0.54
- E12K (p.Glu12Lys), rs760247765, ClinGen CA027657, cosmic curated COSV52661, ClinVar RCV001057780, AlphaMissense 0.11, MetaLR 0.96, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- E12Q (p.Glu12Gln), rs760247765, ClinGen CA344208961, ClinVar RCV000534952, ExAC rs760247765, AlphaMissense 0.11, MetaLR 0.96, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- E14* (p.Glu14Ter), rs772890125, ClinGen CA344208869, ClinVar RCV002584082, ExAC rs772890125, CADD 36.00, Uncertain significance
- E14K (p.Glu14Lys), rs772890125, ClinGen CA028120, ClinVar RCV000549515, ClinVar RCV001844196, CADD 21.40, PolyPhen-2 0.29, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia
- E15K (p.Glu15Lys), cosmic curated COSV52663, TOPMed rs1660719382, gnomAD rs1660719382, CADD 24.00
- Q16K (p.Gln16Lys), rs1660718949, ClinGen CA028859, ClinVar RCV001196038, Ensembl rs1660718949, AlphaMissense 0.07, MetaLR 0.93, Uncertain significance, Dilated cardiomyopathy 1D
- E18* (p.Glu18Ter), rs1660717867, ClinGen CA344208336, ClinVar RCV003805968, TOPMed rs1660717867, Uncertain significance
- A19G (p.Ala19Gly), rs753645200, ClinGen CA030513, ClinVar RCV001920725, ClinVar RCV005762423, CADD 9.26, PolyPhen-2 0.00, Conflicting interpretations, not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- A19S (p.Ala19Ser), rs2527137527, ClinGen CA344208075, ClinVar RCV003793078, ClinVar RCV006548875, Uncertain significance, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- A20D (p.Ala20Asp), rs535282031, ClinGen CA344208058, ClinVar RCV003029079, 1000Genomes rs535282031, CADD 22.50, PolyPhen-2 0.28, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- A20S (p.Ala20Ser), rs1211720474, ClinGen CA344208067, ClinVar RCV003805893, gnomAD rs1211720474, CADD 15.00, PolyPhen-2 0.05, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- A20T (p.Ala20Thr), gnomAD rs1211720474, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- A20V (p.Ala20Val), 1000Genomes rs535282031, ExAC rs535282031, TOPMed rs535282031, gnomAD rs535282031, CADD 23.80, PolyPhen-2 0.01, Uncertain significance
- V21A (p.Val21Ala), Ensembl rs1660682222
- V21I (p.Val21Ile), rs2527137310, ClinGen CA088307, ClinVar RCV002584013, ClinVar RCV005764626, Uncertain significance, Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D; Hypertrophic
- E22* (p.Glu22Ter), rs2527137237, ClinGen CA2580061880, ClinVar RCV003002912, Uncertain significance
- E22K (p.Glu22Lys), rs1660681373, ClinGen CA344208003, cosmic curated COSV52661, ClinVar RCV004015701, AlphaMissense 0.12, MetaLR 0.86, Uncertain significance, Cardiomyopathy
- E23K (p.Glu23Lys), rs772966842, ClinGen CA077330, ClinVar RCV001205175, ExAC rs772966842, CADD 39.00, PolyPhen-2 0.07, Uncertain significance, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- E24G (p.Glu24Gly), ExAC rs767533710, gnomAD rs767533710, CADD 27.30, PolyPhen-2 0.02
- E25D (p.Glu25Asp), ExAC rs761895785, TOPMed rs761895785, gnomAD rs761895785, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- E25G (p.Glu25Gly), TOPMed rs1660349605, gnomAD rs1660349605, CADD 33.00, PolyPhen-2 0.05
- D26A (p.Asp26Ala), ExAC rs751573686, TOPMed rs751573686, gnomAD rs751573686, CADD 22.60, PolyPhen-2 0.29
- R28K (p.Arg28Lys), cosmic curated COSV52664, TOPMed rs1660348221
- D30N (p.Asp30Asn), TOPMed rs1417651225, gnomAD rs1417651225, CADD 21.50, PolyPhen-2 0.04
- E31K (p.Glu31Lys), cosmic curated COSV52665, gnomAD rs929267187, CADD 20.80, PolyPhen-2 0.01
- D32H (p.Asp32His), rs572078239, ClinGen CA032911, ClinVar RCV003156630, 1000Genomes rs572078239, CADD 31.00, PolyPhen-2 0.99, Conflicting interpretations, Dilated cardiomyopathy 1D; not provided
- E33* (p.Glu33Ter), rs377474357, ClinGen CA089131, ClinVar RCV000658098, ClinVar RCV003451616, CADD 61.00, Likely benign
- E33K (p.Glu33Lys), rs377474357, ClinGen CA005334, ClinVar RCV000036314, ClinVar RCV001451173, CADD 33.00, PolyPhen-2 0.00, Conflicting interpretations, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Q34* (p.Gln34Ter), TOPMed rs1350800220, gnomAD rs1350800220, Uncertain significance
- Q34K (p.Gln34Lys), rs1350800220, ClinGen CA344207399, ClinVar RCV000698096, ClinVar RCV001183320, CADD 19.30, PolyPhen-2 0.13, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- E35* (p.Glu35Ter), TOPMed rs867180029, gnomAD rs867180029, Uncertain significance
- E35A (p.Glu35Ala), TOPMed rs1251341467, gnomAD rs1251341467, CADD 22.30, PolyPhen-2 0.06, Uncertain significance
- E35D (p.Glu35Asp), rs1660031053, ClinGen CA344207385, ClinVar RCV001805619, ClinVar RCV003772249, CADD 15.10, PolyPhen-2 0.01, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- E35K (p.Glu35Lys), rs867180029, ClinGen CA344207391, cosmic curated COSV52665, ClinVar RCV001051767, CADD 22.50, PolyPhen-2 0.15, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy
- E35V (p.Glu35Val), rs1251341467, ClinGen CA344207387, ClinVar RCV002391605, ClinVar RCV003103409, CADD 23.20, PolyPhen-2 0.35, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy
- E36K (p.Glu36Lys), Ensembl rs1571649372
- A37E (p.Ala37Glu), ExAC rs776406819, TOPMed rs776406819, gnomAD rs776406819, CADD 3.28, PolyPhen-2 0.00, Uncertain significance
- A37G (p.Ala37Gly), rs776406819, ClinGen CA089208, ClinVar RCV000700417, ClinVar RCV000781910, CADD 8.36, PolyPhen-2 0.00, Conflicting interpretations, Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- A38E (p.Ala38Glu), 1000Genomes rs200754249, ESP rs200754249, ExAC rs200754249, TOPMed rs200754249, CADD 4.61, PolyPhen-2 0.00, Pathogenic, in CMH2
- A38T (p.Ala38Thr), rs770771962, ClinGen CA088724, ClinVar RCV003785578, ClinVar RCV004805065, CADD 19.70, PolyPhen-2 0.01, Uncertain significance, Cardiomyopathy; Cardiomyopathy, familial restrictive, 3; Hypertrophic cardiomyop
- A38V (p.Ala38Val), rs200754249, UniProt VAR 067259, 1000Genomes rs200754249, ESP rs200754249, CADD 5.58, PolyPhen-2 0.00, Conflicting interpretations, not specified; not provided; Dilated cardiomyopathy 1D
- E40K (p.Glu40Lys), rs2102283637, ClinGen CA344207345, ClinVar RCV001916113, Ensembl rs2102283637, AlphaMissense 0.09, MetaLR 0.89, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- D41N (p.Asp41Asn), rs748078123, ClinGen CA089237, ClinVar RCV001176828, ClinVar RCV001237160, CADD 20.50, PolyPhen-2 0.01, Conflicting interpretations, Cardiomyopathy; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive
- A42P (p.Ala42Pro), gnomAD rs1571649102, CADD 12.60, Uncertain significance, Cardiomyopathy
- A42T (p.Ala42Thr), rs1571649102, ClinGen CA344207324, ClinVar RCV000814447, ClinVar RCV001184379, CADD 12.30, PolyPhen-2 0.01, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- A44V (p.Ala44Val), rs778730615, ClinGen CA088874, cosmic curated COSV52665, ClinVar RCV002369183, CADD 10.90, PolyPhen-2 0.01, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- A46P (p.Ala46Pro), rs397516447, ClinGen CA004083, ClinVar RCV000036556, ClinVar RCV000157535, CADD 15.00, PolyPhen-2 0.00, Conflicting interpretations, not specified; Cardiovascular phenotype; not provided
- A46T (p.Ala46Thr), ExAC rs397516447, TOPMed rs397516447, gnomAD rs397516447, Likely benign
- T48I (p.Thr48Ile), rs2102283440, ClinGen CA344207251, ClinVar RCV002471427, ClinVar RCV004007472, CADD 5.50, PolyPhen-2 0.00, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy
- E49K (p.Glu49Lys), rs757526942, ClinGen CA088017, ClinVar RCV001175668, ClinVar RCV001875780, CADD 20.50, PolyPhen-2 0.20, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict
- E50G (p.Glu50Gly), rs1224117594, ClinGen CA344207232, ClinVar RCV002837478, TOPMed rs1224117594, CADD 22.90, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- E50K (p.Glu50Lys), rs1660021596, ClinGen CA344207239, ClinVar RCV001181594, ClinVar RCV005512928, AlphaMissense 0.09, MetaLR 0.92, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- E54Q (p.Glu54Gln), TOPMed rs1268172537
- E55* (p.Glu55Ter), rs730881120, ClinGen CA344207177, ClinVar RCV000646058, ClinVar RCV001524941, AlphaMissense 0.07, MetaLR 0.91, Likely pathogenic
- E55K (p.Glu55Lys), rs730881120, ClinGen CA004095, ClinVar RCV001910608, ClinVar RCV004996110, AlphaMissense 0.07, MetaLR 0.91, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- D56N (p.Asp56Asn), Ensembl rs377341875
- D56V (p.Asp56Val), cosmic curated COSV99372, gnomAD rs1416198683
- E57* (p.Glu57Ter), gnomAD rs1168435601, CADD 36.00
- E58K (p.Glu58Lys), rs1659923363, ClinGen CA344207060, ClinVar RCV001171171, ClinVar RCV006557084, CADD 17.20, PolyPhen-2 0.00, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- E59K (p.Glu59Lys), rs568628521, ClinGen CA344207048, ClinVar RCV000768725, ClinVar RCV001869063, AlphaMissense 0.07, MetaLR 0.93, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- E59Q (p.Glu59Gln), rs568628521, ClinVar RCV004595276, 1000Genomes rs568628521, ExAC rs568628521, AlphaMissense 0.07, MetaLR 0.93, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- E60D (p.Glu60Asp), ExAC rs774064875, CADD 13.30, PolyPhen-2 0.00, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- E61K (p.Glu61Lys), rs1659921532, ClinGen CA344207021, ClinVar RCV004012485, ClinVar RCV005216183, AlphaMissense 0.08, MetaLR 0.93, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- A62E (p.Ala62Glu), rs1659920547, ClinGen CA344207001, cosmic curated COSV99372, ClinVar RCV004015585, CADD 0.00, PolyPhen-2 0.00, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- A62T (p.Ala62Thr), rs1392406286, ClinGen CA344207003, cosmic curated COSV99372, ClinVar RCV003798043, CADD 13.20, PolyPhen-2 0.00, Uncertain significance, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- E64D (p.Glu64Asp), TOPMed rs1180516886, gnomAD rs1180516886, Likely benign
- A65D (p.Ala65Asp), rs768463992, ClinGen CA088909, ClinVar RCV003533557, ClinVar RCV005216135, CADD 14.10, PolyPhen-2 0.00, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- A65P (p.Ala65Pro), rs1659919080, ClinGen CA344206967, ClinVar RCV001187958, Ensembl rs1659919080, AlphaMissense 0.09, MetaLR 0.86, Uncertain significance, Cardiomyopathy
- M70L (p.Met70Leu), rs141837529, ClinGen CA004111, ClinVar RCV000152108, 1000Genomes rs141837529, AlphaMissense 0.08, MetaLR 0.81, Uncertain significance, not specified
- M70V (p.Met70Val), rs141837529, ClinGen CA004115, ClinVar RCV000036559, ClinVar RCV000766663, AlphaMissense 0.08, MetaLR 0.81, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- E71A (p.Glu71Ala), rs2102274024, ClinGen CA344206798, ClinVar RCV001998264, Ensembl rs2102274024, AlphaMissense 0.11, MetaLR 0.95, Uncertain significance, Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D; Hypertrophic
- E71K (p.Glu71Lys), cosmic curated COSV52664, gnomAD rs1375419048, CADD 24.80, PolyPhen-2 0.39
- S73A (p.Ser73Ala), gnomAD rs1659746844, CADD 21.40
- P75Q (p.Pro75Gln), rs371394312, ClinGen CA35425622, ClinVar RCV002299483, ESP rs371394312, AlphaMissense 0.16, MetaLR 0.99, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- K76N (p.Lys76Asn), rs727504869, ClinGen CA004120, ClinVar RCV000156231, ExAC rs727504869, AlphaMissense 0.78, MetaLR 0.98, Uncertain significance, not specified
- K76Q (p.Lys76Gln), rs2102273869, ClinGen CA344206767, ClinVar RCV001960414, Ensembl rs2102273869, AlphaMissense 0.21, MetaLR 0.98, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- P77L (p.Pro77Leu), rs769040140, ClinGen CA088085, ClinVar RCV001928654, ClinVar RCV004804303, CADD 27.30, PolyPhen-2 0.71, Uncertain significance, Cardiomyopathy; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive
- P77S (p.Pro77Ser), ExAC rs774702133, gnomAD rs774702133, CADD 26.30, PolyPhen-2 0.83, Uncertain significance
- P77T (p.Pro77Thr), rs774702133, ClinGen CA088945, ClinVar RCV003533556, ExAC rs774702133, CADD 26.00, PolyPhen-2 0.92, Uncertain significance, Cardiomyopathy
- S79L (p.Ser79Leu), rs761953142, ClinGen CA088538, cosmic curated COSV52661, ClinVar RCV000996106, AlphaMissense 0.20, MetaLR 0.96, Conflicting interpretations, not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- S79T (p.Ser79Thr), rs1298762072, ClinGen CA344206742, ClinVar RCV003066466, ClinVar RCV004009302, CADD 16.90, PolyPhen-2 0.00, Uncertain significance, Cardiomyopathy; Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy
- S79W (p.Ser79Trp), rs761953142, ClinGen CA344206739, ClinVar RCV001804550, ExAC rs761953142, AlphaMissense 0.20, MetaLR 0.96, Uncertain significance, Cardiomyopathy
- F80L (p.Phe80Leu), rs886039053, ClinGen CA10587418, ClinVar RCV000249796, ClinVar RCV001582899, CADD 23.00, PolyPhen-2 0.89, Uncertain significance, not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2
- M81I (p.Met81Ile), rs2102265521, ClinGen CA088533, ClinVar RCV002051334, Ensembl rs2102265521, AlphaMissense 0.44, MetaLR 0.95, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- M81L (p.Met81Leu), cosmic curated COSV52665, gnomAD rs1311480063, CADD 21.20, PolyPhen-2 0.01
- P82A (p.Pro82Ala), rs1396260543, ClinGen CA344206724, ClinVar RCV003533554, gnomAD rs1396260543, CADD 25.90, PolyPhen-2 0.91, Uncertain significance, Cardiomyopathy
- P82H (p.Pro82His), rs386352374, ClinGen CA004134, ClinVar RCV000122466, gnomAD rs386352374, AlphaMissense 0.41, MetaLR 0.99, Uncertain significance, not provided
- P82R (p.Pro82Arg), gnomAD rs386352374, AlphaMissense 0.41, MetaLR 0.99, Uncertain significance, Cardiomyopathy
- N83D (p.Asn83Asp), rs1060500235, ClinGen CA16610016, ClinVar RCV000473984, Ensembl rs1060500235, AlphaMissense 0.38, MetaLR 0.96, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- N83H (p.Asn83His), rs1060500235, ClinGen CA344206721, ClinVar RCV000491780, Ensembl rs1060500235, AlphaMissense 0.38, MetaLR 0.96, Uncertain significance, Hypokinetic non-dilated cardiomyopathy
- N83S (p.Asn83Ser), rs397516450, ClinGen CA088088, ClinVar RCV000036562, ClinVar RCV000553495, CADD 23.10, PolyPhen-2 0.57, Conflicting interpretations, Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy 2
- V85G (p.Val85Gly), rs730881095, ClinGen CA004142, ClinVar RCV000159270, ClinVar RCV000460783, CADD 24.10, PolyPhen-2 0.10, Uncertain significance, Cardiovascular phenotype; not provided; not specified
- V85M (p.Val85Met), rs1659529300, ClinGen CA344206708, ClinVar RCV001184603, Ensembl rs1659529300, AlphaMissense 0.23, MetaLR 0.92, Likely pathogenic, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- P86L (p.Pro86Leu), rs2102265293, ClinGen CA344206698, ClinVar RCV002261624, Ensembl rs2102265293, CADD 28.50, PolyPhen-2 0.82, Uncertain significance, not provided
- P87L (p.Pro87Leu), rs144900708, ClinGen CA089970, ClinVar RCV000036563, ClinVar RCV000148902, CADD 24.40, PolyPhen-2 0.35, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- P87T (p.Pro87Thr), rs730881096, ClinGen CA004147, ClinVar RCV000159271, ClinVar RCV002515087, AlphaMissense 0.72, MetaLR 0.98, Conflicting interpretations, not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- K88E (p.Lys88Glu), rs1659525886, ClinGen CA344206692, ClinVar RCV001324900, ClinVar RCV002447372, AlphaMissense 0.89, MetaLR 0.97, Uncertain significance, not provided
- I89F (p.Ile89Phe), rs746297911, ClinGen CA088960, ClinVar RCV000807862, ExAC rs746297911, CADD 28.40, PolyPhen-2 0.97, Likely pathogenic, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- I89N (p.Ile89Asn), rs121964855, ClinGen CA004157, ClinVar RCV000013217, ClinVar RCV000013218, CADD 28.80, PolyPhen-2 0.99, Pathogenic, Cardiovascular phenotype; Cardiomyopathy, familial restrictive, 3; Dilated cardi
- I89T (p.Ile89Thr), TOPMed rs121964855, gnomAD rs121964855, Pathogenic, in CMH2
- P90L (p.Pro90Leu), rs730881121, ClinGen CA004176, ClinVar RCV000159336, Ensembl rs730881121, AlphaMissense 0.73, MetaLR 0.98, Pathogenic, not provided
- P90S (p.Pro90Ser), rs397516451, ClinGen CA004170, ClinVar RCV000036565, ClinVar RCV000204383, AlphaMissense 0.78, MetaLR 0.98, Uncertain significance, Cardiovascular phenotype; not specified; not provided
- P90T (p.Pro90Thr), rs397516451, ClinGen CA004164, ClinVar RCV000159273, ClinVar RCV001798538, AlphaMissense 0.78, MetaLR 0.98, Conflicting interpretations, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- D91N (p.Asp91Asn), rs1571630555, ClinGen CA344206679, cosmic curated COSV52661, ClinVar RCV001360760, CADD 27.00, PolyPhen-2 0.99, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- G92R (p.Gly92Arg), rs727504255, ClinGen CA004195, ClinVar RCV000154228, ClinVar RCV000159274, AlphaMissense 0.90, MetaLR 0.97, Pathogenic/Likely pathogenic, not provided; Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D
- E93D (p.Glu93Asp), rs727503514, ClinGen CA004209, ClinVar RCV000152107, ClinVar RCV003298160, CADD 17.40, PolyPhen-2 0.18, Uncertain significance, Cardiovascular phenotype; Dilated cardiomyopathy 1D; Cardiomyopathy, familial re
- E93K (p.Glu93Lys), rs727504244, ClinGen CA004202, ClinVar RCV000154214, ClinVar RCV000225724, CADD 28.90, PolyPhen-2 0.98, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- R94I (p.Arg94Ile), rs397516452, ClinGen CA344206660, ClinVar RCV003794737, ClinVar RCV004775500, AlphaMissense 0.73, MetaLR 0.94, Conflicting interpretations, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- R94S (p.Arg94Ser), rs397516453, ClinGen CA004222, ClinVar RCV000036569, ClinVar RCV001171168, AlphaMissense 0.92, MetaLR 0.92, Pathogenic, Hypertrophic cardiomyopathy 2
- R94T (p.Arg94Thr), rs397516452, ClinGen CA004216, ClinVar RCV000036568, ClinVar RCV000159277, AlphaMissense 0.73, MetaLR 0.94, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- V95A (p.Val95Ala), rs2102264743, ClinGen CA090143, ClinVar RCV001920084, Ensembl rs2102264743, AlphaMissense 0.91, MetaLR 0.96, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- V95L (p.Val95Leu), Ensembl rs1659515084, AlphaMissense 0.70, MetaLR 0.96, Pathogenic
- V95M (p.Val95Met), rs1659515084, ClinGen CA344206658, ClinVar RCV001987101, ClinVar RCV003323302, AlphaMissense 0.70, MetaLR 0.96, Likely pathogenic, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- D96A (p.Asp96Ala), rs397516455, ClinGen CA004228, ClinVar RCV000036571, ClinVar RCV000505760, CADD 28.70, PolyPhen-2 1.00, Pathogenic/Likely pathogenic, Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy 2
- D96N (p.Asp96Asn), rs1553282768, ClinGen CA027243, ClinVar RCV000546244, ClinVar RCV004802173, AlphaMissense 0.84, MetaLR 0.97, Conflicting interpretations, Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia
- D96Y (p.Asp96Tyr), rs1553282768, ClinVar RCV006598172, Ensembl rs1553282768, AlphaMissense 0.84, MetaLR 0.97, Likely pathogenic, Cardiomyopathy, familial restrictive, 3; Hypertrophic cardiomyopathy 2; Dilated
- F97L (p.Phe97Leu), rs730881098, ClinVar RCV005219688, Ensembl rs730881098, AlphaMissense 0.99, MetaLR 0.94, Pathogenic, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- D98E (p.Asp98Glu), rs397516454, ClinGen CA344206634, ClinVar RCV000825476, Ensembl rs397516454, AlphaMissense 0.95, MetaLR 0.94, Likely pathogenic, not provided; Primary dilated cardiomyopathy
- I100M (p.Ile100Met), rs1230932782, ClinGen CA344206596, ClinVar RCV001171167, gnomAD rs1230932782, AlphaMissense 0.52, MetaLR 0.96, Uncertain significance, Cardiomyopathy
- I100N (p.Ile100Asn), rs2102262330, ClinGen CA344206599, ClinVar RCV002273196, ClinVar RCV005227563, AlphaMissense 0.98, MetaLR 0.97, Likely pathogenic, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- H101L (p.His101Leu), rs1553282617, ClinGen CA344206589, ClinVar RCV000646070, Ensembl rs1553282617, AlphaMissense 0.62, MetaLR 0.96, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- H101Y (p.His101Tyr), rs2102262282, ClinGen CA344206593, cosmic curated COSV10635, ClinVar RCV001752653, CADD 26.40, PolyPhen-2 0.98, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familia
- R102L (p.Arg102Leu), rs121964856, ClinGen CA10581129, cosmic curated COSV99372, ClinVar RCV000223821, AlphaMissense 0.42, MetaLR 0.96, Pathogenic, Cardiovascular phenotype; TNNT2-related disorder; not provided
- R102Q (p.Arg102Gln), rs121964856, ClinGen CA004273, cosmic curated COSV52665, ClinVar RCV000013220, AlphaMissense 0.42, MetaLR 0.96, Pathogenic/Likely pathogenic, Cardiovascular phenotype; not provided; Cardiomyopathy, familial restrictive, 3
- R102W (p.Arg102Trp), rs397516456, ClinGen CA004266, cosmic curated COSV52663, ClinVar RCV000159280, CADD 32.00, PolyPhen-2 1.00, Pathogenic/Likely pathogenic, Cardiovascular phenotype; TNNT2-related disorder; not provided
- K103E (p.Lys103Glu), rs730881122, ClinGen CA088114, ClinVar RCV001752181, Ensembl rs730881122, AlphaMissense 0.98, MetaLR 0.98, Uncertain significance, not provided
- K103N (p.Lys103Asn), rs778426227, ClinGen CA10587420, ClinVar RCV000246459, ClinVar RCV001854989, AlphaMissense 0.99, MetaLR 0.98, Conflicting interpretations, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- K103Q (p.Lys103Gln), rs730881122, ClinGen CA004281, ClinVar RCV000768492, ClinVar RCV006555515, AlphaMissense 0.98, MetaLR 0.98, Conflicting interpretations, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- R104C (p.Arg104Cys), rs727503513, ClinGen CA004288, cosmic curated COSV52661, ClinVar RCV000152104, AlphaMissense 0.98, MetaLR 0.98, Pathogenic/Likely pathogenic, Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1D
- R104H (p.Arg104His), rs397516457, ClinGen CA004294, cosmic curated COSV52663, ClinVar RCV000036575, CADD 32.00, PolyPhen-2 1.00, Likely pathogenic, Hypertrophic cardiomyopathy
- R104L (p.Arg104Leu), rs397516457, ClinGen CA004302, ClinVar RCV000036576, ClinVar RCV000159284, CADD 32.00, PolyPhen-2 1.00, Pathogenic/Likely pathogenic, Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy
- R104P (p.Arg104Pro), Ensembl rs397516457, Conflicting interpretations, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- M105I (p.Met105Ile), TOPMed rs1318733354, gnomAD rs1318733354, CADD 23.50, PolyPhen-2 0.21, Uncertain significance, Cardiovascular phenotype
- M105L (p.Met105Leu), ExAC rs397516458, TOPMed rs397516458, gnomAD rs397516458, Uncertain significance
- M105T (p.Met105Thr), rs748914885, ClinGen CA088981, ClinVar RCV003791989, ExAC rs748914885, CADD 24.70, PolyPhen-2 0.39, Uncertain significance, Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- M105V (p.Met105Val), rs397516458, ClinGen CA004308, ClinVar RCV000036577, ClinVar RCV001099104, CADD 22.70, PolyPhen-2 0.01, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- E106K (p.Glu106Lys), rs869312881, ClinGen CA088557, ClinVar RCV000210349, ClinVar RCV001798699, AlphaMissense 0.89, MetaLR 0.98, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- K107E (p.Lys107Glu), rs1659444898, ClinGen CA344206524, ClinVar RCV001037499, Ensembl rs1659444898, AlphaMissense 0.98, MetaLR 0.97, Uncertain significance, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- K107N (p.Lys107Asn), rs397516459, ClinGen CA004322, ClinVar RCV000223847, ClinVar RCV000788201, CADD 29.00, PolyPhen-2 1.00, Pathogenic, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- D108E (p.Asp108Glu), rs1553282545, ClinGen CA344206498, ClinVar RCV000646068, ClinVar RCV004025695, AlphaMissense 0.99, MetaLR 0.96, Conflicting interpretations, Cardiovascular phenotype; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy
- L109M (p.Leu109Met), ExAC rs779857935, gnomAD rs779857935, CADD 25.00, PolyPhen-2 0.90, Likely benign
- N110K (p.Asn110Lys), gnomAD rs1571627612, CADD 5.42
- N110S (p.Asn110Ser), rs727505027, ClinGen CA004329, ClinVar RCV000156453, ClinVar RCV003531988, CADD 22.30, PolyPhen-2 0.24, Uncertain significance, Cardiomyopathy; not specified
- E111D (p.Glu111Asp), rs1659441464, ClinGen CA344206462, ClinVar RCV001318555, ClinVar RCV001751548, AlphaMissense 0.75, MetaLR 0.97, Uncertain significance, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Q113E (p.Gln113Glu), rs2102261570, ClinGen CA344206447, ClinVar RCV001959522, Ensembl rs2102261570, CADD 27.10, PolyPhen-2 0.96, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- A114E (p.Ala114Glu), rs727504245, ClinGen CA344206434, ClinVar RCV001908930, ClinVar RCV002324303, AlphaMissense 0.17, MetaLR 0.90, Conflicting interpretations, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- A114P (p.Ala114Pro), rs1553282527, ClinGen CA344206435, ClinVar RCV000646056, 1000Genomes rs1553282527, AlphaMissense 0.06, MetaLR 0.70, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- A114T (p.Ala114Thr), rs1553282527, ClinGen CA344206436, ClinVar RCV000794852, ClinVar RCV004691297, AlphaMissense 0.06, MetaLR 0.70, Uncertain significance, not provided; Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D
- A114V (p.Ala114Val), rs727504245, ClinGen CA004337, cosmic curated COSV52664, ClinVar RCV000476946, AlphaMissense 0.17, MetaLR 0.90, Conflicting interpretations, Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1D
- L115P (p.Leu115Pro), rs1659438954, ClinGen CA344206426, ClinVar RCV001298650, Ensembl rs1659438954, AlphaMissense 1.00, MetaLR 0.98, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- I116M (p.Ile116Met), 1000Genomes rs3729547, ESP rs3729547, ExAC rs3729547, TOPMed rs3729547, Benign
- I116T (p.Ile116Thr), rs1553282523, ClinGen CA658656984, ClinVar RCV000646067, ClinVar RCV001524972, CADD 28.80, PolyPhen-2 1.00, Uncertain significance, Cardiovascular phenotype
- E117* (p.Glu117Ter), rs730881099, ClinGen CA004369, cosmic curated COSV52660, ClinVar RCV000159287, AlphaMissense 0.43, MetaLR 0.97, Uncertain significance
- E117K (p.Glu117Lys), rs730881099, ClinGen CA004361, ClinVar RCV000159286, ClinVar RCV001183716, AlphaMissense 0.43, MetaLR 0.97, Uncertain significance, Cardiovascular phenotype
- H119Y (p.His119Tyr), rs397516460, ClinGen CA004375, ClinVar RCV000036580, ClinVar RCV004017308, AlphaMissense 0.94, MetaLR 0.89, Conflicting interpretations, Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- F120I (p.Phe120Ile), rs121964858, ClinGen CA004383, ClinVar RCV000013223, ClinVar RCV000223682, AlphaMissense 0.97, MetaLR 0.90, Pathogenic, not provided; Cardiomyopathy; Hypertrophic cardiomyopathy 2
- F120L (p.Phe120Leu), rs727504331, ClinGen CA004389, ClinVar RCV000159288, ClinVar RCV000211744, CADD 23.50, PolyPhen-2 1.00, Likely pathogenic, not provided; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3
- F120V (p.Phe120Val), rs121964858, ClinGen CA10581127, ClinVar RCV000223859, UniProt VAR 019878, AlphaMissense 0.97, MetaLR 0.90, Uncertain significance, not provided
- E121G (p.Glu121Gly), rs2102261165, ClinGen CA344206355, ClinVar RCV001991858, Ensembl rs2102261165, AlphaMissense 0.32, MetaLR 0.89, Uncertain significance, Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- N122D (p.Asn122Asp), rs1553282484, ClinGen CA344206346, ClinVar RCV000646071, Ensembl rs1553282484, AlphaMissense 0.36, MetaLR 0.67, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- R123S (p.Arg123Ser), rs1558230929, ClinGen CA344206325, ClinVar RCV001301802, Ensembl rs1558230929, AlphaMissense 1.00, MetaLR 0.87, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- K125I (p.Lys125Ile), rs1558230900, ClinGen CA344206298, ClinVar RCV000774302, Ensembl rs1558230900, AlphaMissense 0.72, MetaLR 0.90, Uncertain significance, Cardiomyopathy
- E128K (p.Glu128Lys), rs397516461, ClinGen CA004396, ClinVar RCV000036581, Ensembl rs397516461, AlphaMissense 0.35, MetaLR 0.92, Uncertain significance, TNNT2-related disorder; not provided; Cardiomyopathy, familial restrictive, 3
- E129Q (p.Glu129Gln), rs1571627006, ClinGen CA344206251, ClinVar RCV000845448, Ensembl rs1571627006, AlphaMissense 0.66, MetaLR 0.91, Likely pathogenic, Primary familial dilated cardiomyopathy
- L130V (p.Leu130Val), rs767617578, ClinGen CA088983, ClinVar RCV002460300, ClinVar RCV003099603, CADD 28.90, PolyPhen-2 0.97, Uncertain significance, Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
Public TNNT2 analysis runs
- TNNT2 analysis run — TNNT2 (566 variants) — completed 2026-08-10