TPM1 (Tropomyosin alpha-1 chain) variants and mutations
TPM1 (also known as Tropomyosin alpha-1 chain) is a human protein-coding gene encoding a tropomyosin alpha-1 chain protein. It lies along actin filaments and helps control access of myosin to actin in response to troponin and calcium, while also stabilizing cytoskeletal actin in nonmuscle cells. Pathogenic variants can cause hypertrophic or dilated cardiomyopathy and several congenital myopathies. This analysis covers 541 TPM1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy, left ventricular noncompaction, and left ventricular noncompaction 9. Example TPM1 variants include M1?, D2H, and D2Y.
Variant analysis overview
- Gene: TPM1
- Protein: Tropomyosin alpha-1 chain
- UniProt accession: P09493
- Organism: Homo sapiens
- Variants analyzed: 541
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 396 unspecified-consequence records; 39 synonymous variants; 5 in-frame deletions; 4 frameshift variants; 9 stop-gained variants; 82 missense variants; 2 splice-region variants; 4 substitution
- Prediction scores: 447 variants have prediction scores (83% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy, left ventricular noncompaction, left ventricular noncompaction 9, familial isolated dilated cardiomyopathy, Rare familial disorder with hypertrophic cardiomyopathy, Abnormality of the cardiovascular system, cardiomyopathy, dilated cardiomyopathy, familial hypertrophic cardiomyopathy, familial cardiomyopathy, hypertrophic cardiomyopathy 1, Left ventricular noncompaction cardiomyopathy.
Protein structure and variant hotspots
- Protein features: 15 post-translational modification sites.
- PTM context: 19 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable TPM1 variants
Examples include M1?, D2H, D2Y, D2D, I4V, I4I, I4M, K5K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- D2H (p.Asp2His), rs1060501865, ClinGen CA16614538, ClinVar RCV000457778, ClinVar RCV004992233, AlphaMissense 0.96, MetaLR 0.97, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy
- D2Y (p.Asp2Tyr), cosmic curated COSV10803
- D2D (p.Asp2Asp), rs1350935943, gnomAD 15-63042835-C-T, CADD 16.50
- I4V (p.Ile4Val), rs730881148, ClinGen CA018581, ClinVar RCV000159393, ClinVar RCV003765003, REVEL 0.65, CADD 24.80, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- I4I (p.Ile4Ile), gnomAD 15-63043720-C-A, CADD 20.20
- I4M (p.Ile4Met), rs771867998, gnomAD 15-63043720-C-G, CADD 20.40
- K5K (p.Lys5Lys), rs2140594119, gnomAD 15-63042844-G-A, CADD 17.00
- K6R (p.Lys6Arg), rs900504800, ClinGen CA272020110, ClinVar RCV000788388, ClinVar RCV005092363, AlphaMissense 0.33, MetaLR 0.98, Uncertain significance, Hypertrophic cardiomyopathy
- K6K (p.Lys6Lys), rs753446292, gnomAD 15-63042847-G-A, CADD 17.10
- K7del (p.Lys7del), rs730881155, gnomAD 15-63042841-CAAG-, CADD 23.10
- M8I (p.Met8Ile), TOPMed rs2031423711, Uncertain significance, Cardiovascular phenotype
- M8K (p.Met8Lys), rs397516364, ClinGen CA392717962, ClinVar RCV001302170, Ensembl rs397516364, AlphaMissense 0.98, MetaLR 0.98, Uncertain significance, Hypertrophic cardiomyopathy
- M8R (p.Met8Arg), rs397516364, ClinGen CA017898, ClinVar RCV000036318, Ensembl rs397516364, AlphaMissense 0.98, MetaLR 0.98, Likely pathogenic, Primary dilated cardiomyopathy
- Q9K (p.Gln9Lys), rs730881149, ClinGen CA018800, ClinVar RCV000159394, ClinVar RCV000619514, AlphaMissense 0.72, MetaLR 0.96, Uncertain significance, not provided; Cardiovascular phenotype
- Q9L (p.Gln9Leu), rs1555402931, ClinGen CA392717971, ClinVar RCV000521387, ClinVar RCV001857996, AlphaMissense 0.16, MetaLR 0.94, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- Q9R (p.Gln9Arg), rs1555402931, ClinGen CA392717970, ClinVar RCV001211860, Ensembl rs1555402931, REVEL 0.73, AlphaMissense 0.16, Uncertain significance, Hypertrophic cardiomyopathy
- Q9A (p.Gln9Ala), gnomAD 15-63042852-T-TG, CADD 33.00
- Q9* (p.Gln9Ter), gnomAD 15-63042854-C-T, CADD 39.00
- Q9H (p.Gln9His), gnomAD 15-63042856-G-C, REVEL 0.63, CADD 27.00
- Q9Q (p.Gln9Gln), rs397516365, gnomAD 15-63042856-G-A, CADD 14.80
- M10I (p.Met10Ile), rs868300913, ClinGen CA272020126, ClinVar RCV002913510, Ensembl rs868300913, AlphaMissense 0.96, MetaLR 0.96, Uncertain significance, Hypertrophic cardiomyopathy
- L11L (p.Leu11Leu), rs766883758, gnomAD 15-63042860-C-T, CADD 16.20
- K12* (p.Lys12Ter), rs2031426015, ClinGen CA392717988, ClinVar RCV001177029, TOPMed rs2031426015, Uncertain significance
- K12M (p.Lys12Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K12N (p.Lys12Asn), cosmic curated COSV51260, Uncertain significance, Cardiovascular phenotype
- K12T (p.Lys12Thr), gnomAD 15-63042864-A-C, REVEL 0.71, CADD 32.00
- K12K (p.Lys12Lys), rs1313549801, gnomAD 15-63042865-G-A, CADD 15.70
- L13F (p.Leu13Phe), NCI-TCGA Cosmic COSV9914, Variant assessed as somatic; moderate impact.
- L13I (p.Leu13Ile), cosmic curated COSV99147
- L13L (p.Leu13Leu), rs1439080260, gnomAD 15-63042868-C-T, CADD 15.60
- D14Y (p.Asp14Tyr), rs876661210, ClinGen CA10577515, ClinVar RCV000213187, ClinVar RCV001854749, AlphaMissense 0.96, MetaLR 0.97, Conflicting interpretations, not provided; Hypertrophic cardiomyopathy
- K15N (p.Lys15Asn), rs199476301, ClinGen CA018057, ClinVar RCV000024588, ClinVar RCV000036334, AlphaMissense 0.99, MetaLR 0.99, Conflicting interpretations, not specified; Hypertrophic cardiomyopathy
- K15R (p.Lys15Arg), rs869025539, ClinGen CA352123, ClinVar RCV000208520, ClinVar RCV003989503, REVEL 0.62, CADD 32.00, Uncertain significance, Dilated cardiomyopathy 1Y
- E16* (p.Glu16Ter), cosmic curated COSV99146
- E16K (p.Glu16Lys), rs727504290, ClinGen CA392718014, ClinVar RCV001992902, Ensembl rs727504290, AlphaMissense 0.87, MetaLR 0.97, Uncertain significance, Hypertrophic cardiomyopathy
- E16Q (p.Glu16Gln), rs727504290, ClinGen CA018063, ClinVar RCV000154303, ClinVar RCV000159395, AlphaMissense 0.87, MetaLR 0.97, Conflicting interpretations, not specified; not provided; Cardiomyopathy
- E16E (p.Glu16Glu), rs755581369, gnomAD 15-63042877-G-A, CADD 15.50
- N17K (p.Asn17Lys), rs878854150, ClinGen CA392718027, ClinVar RCV004013570, TOPMed rs878854150, REVEL 0.60, CADD 23.80, Uncertain significance, Hypertrophic cardiomyopathy
- N17T (p.Asn17Thr), cosmic curated COSV10876
- N17N (p.Asn17Asn), rs878854150, gnomAD 15-63042880-C-T, CADD 13.60
- A18D (p.Ala18Asp), rs730881150, ClinGen CA019030, ClinVar RCV002011025, Ensembl rs730881150, AlphaMissense 0.85, MetaLR 0.98, Uncertain significance, Hypertrophic cardiomyopathy
- A18T (p.Ala18Thr), cosmic curated COSV51261, Conflicting interpretations, not provided; Hypertrophic cardiomyopathy
- A18V (p.Ala18Val), rs730881150, ClinGen CA392718032, ClinVar RCV001051715, Ensembl rs730881150, AlphaMissense 0.85, MetaLR 0.98, Uncertain significance, Hypertrophic cardiomyopathy
- A18A (p.Ala18Ala), rs781415770, gnomAD 15-63042883-C-T, CADD 16.10
- D20N (p.Asp20Asn), rs727504391, ClinGen CA018165, ClinVar RCV000154553, ClinVar RCV000766942, REVEL 0.85, CADD 28.10, Uncertain significance, not specified; not provided; Hypertrophic cardiomyopathy
- R21L (p.Arg21Leu), rs730881151, ClinGen CA019198, ClinVar RCV000168980, ClinVar RCV000201492, REVEL 0.79, CADD 27.90, Conflicting interpretations, Cardiovascular phenotype; not provided; Cardiomyopathy
- R21P (p.Arg21Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R21R (p.Arg21Arg), rs1437698471, gnomAD 15-63042890-C-A, CADD 16.90
- A22G (p.Ala22Gly), rs2031431973, ClinGen CA392718055, ClinVar RCV001184165, ClinVar RCV004008438, REVEL 0.73, AlphaMissense 0.41, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- A22T (p.Ala22Thr), rs397516382, ClinGen CA018249, ClinVar RCV000036351, ClinVar RCV000223842, REVEL 0.82, CADD 32.00, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- A22V (p.Ala22Val), rs2031431973, ClinGen CA392718054, cosmic curated COSV51261, ClinVar RCV001908493, AlphaMissense 0.41, MetaLR 0.98, Uncertain significance, Hypertrophic cardiomyopathy
- A22A (p.Ala22Ala), rs1235744996, gnomAD 15-63042895-T-C, CADD 9.93
- E23A (p.Glu23Ala), rs2140595470, ClinGen CA392718058, ClinVar RCV002008704, ClinVar RCV002471211, AlphaMissense 0.52, MetaLR 0.95, Uncertain significance, Familial cardiomyopathy; Hypertrophic cardiomyopathy
- E23D (p.Glu23Asp), rs876661396, ClinGen CA10581183, ClinVar RCV000223855, Ensembl rs876661396, REVEL 0.41, CADD 22.70, Uncertain significance, not provided
- E23Q (p.Glu23Gln), rs199476302, ClinGen CA019276, ClinVar RCV000024589, ClinVar RCV001053173, AlphaMissense 0.46, MetaLR 0.94, Uncertain significance, Hypertrophic cardiomyopathy
- Q24* (p.Gln24Ter), rs2031433492, ClinGen CA392718064, ClinVar RCV002690211, Ensembl rs2031433492, CADD 38.00, Uncertain significance
- A25V (p.Ala25Val), rs2031433815, ClinGen CA392718073, ClinVar RCV002025854, ClinVar RCV006550841, AlphaMissense 0.54, MetaLR 0.95, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- A25T (p.Ala25Thr), gnomAD 15-63042902-G-A, REVEL 0.58, CADD 31.00
- A25E (p.Ala25Glu), gnomAD 15-63042903-C-A, REVEL 0.65, CADD 27.70
- A25A (p.Ala25Ala), rs1214191576, gnomAD 15-63042904-G-A, CADD 12.30
- E26G (p.Glu26Gly), rs730880234, ClinGen CA019383, ClinVar RCV000157543, Ensembl rs730880234, CADD 22.40, Uncertain significance
- E26K (p.Glu26Lys), rs2140595656, ClinGen CA392718076, NCI-TCGA Cosmic COSV5126, cosmic curated COSV51260, CADD 21.60, Uncertain significance, Hypertrophic cardiomyopathy
- E26E (p.Glu26Glu), rs777981114, gnomAD 15-63042907-G-A, CADD 14.40
- A27S (p.Ala27Ser), cosmic curated COSV10608
- A27V (p.Ala27Val), gnomAD rs1346512134
- A27A (p.Ala27Ala), gnomAD 15-63042910-C-A, CADD 14.60
- D28H (p.Asp28His), rs397516391, ClinGen CA018385, ClinVar RCV000036364, ClinVar RCV000620750, REVEL 0.59, CADD 32.00, Conflicting interpretations, Hypertrophic cardiomyopathy 21; Cardiovascular phenotype; not specified
- D28N (p.Asp28Asn), rs397516391, ClinGen CA018380, ClinVar RCV000036363, ClinVar RCV000621745, REVEL 0.36, CADD 26.40, Uncertain significance, Cardiovascular phenotype; not provided; not specified
- D28Y (p.Asp28Tyr), rs397516391, ClinGen CA019427, ClinVar RCV002269410, ClinVar RCV002300669, REVEL 0.63, CADD 31.00, Uncertain significance, Hypertrophic cardiomyopathy; not provided
- K29E (p.Lys29Glu), gnomAD rs1255071660, REVEL 0.50, CADD 25.80, Uncertain significance, Hypertrophic cardiomyopathy
- K29R (p.Lys29Arg), Ensembl rs2140596080, REVEL 0.36, CADD 23.30
- K29K (p.Lys29Lys), rs530234301, gnomAD 15-63042916-G-A, CADD 15.10
- K30A (p.Lys30Ala), rs1555402999, ClinGen CA658658294, ClinVar RCV000531857, Ensembl rs1555402999, Uncertain significance, Hypertrophic cardiomyopathy
- K30R (p.Lys30Arg), gnomAD rs1447267149, REVEL 0.44, CADD 23.80
- A31E (p.Ala31Glu), ExAC rs749500508, gnomAD rs749500508, REVEL 0.41, CADD 22.50
- A31T (p.Ala31Thr), rs397516396, ClinGen CA018439, ClinVar RCV000036370, TOPMed rs397516396, REVEL 0.48, CADD 23.60, Uncertain significance, not specified
- A31V (p.Ala31Val), gnomAD 15-63042921-C-T, REVEL 0.41, CADD 23.80
- A31A (p.Ala31Ala), rs770661916, gnomAD 15-63042922-G-A, CADD 15.40
- A32L (p.Ala32Leu), rs2031440279, ClinGen CA2182486487, ClinVar RCV001320284, Ensembl rs2031440279, Uncertain significance, Hypertrophic cardiomyopathy
- A32S (p.Ala32Ser), rs2140596321, ClinGen CA392718133, ClinVar RCV001525801, ClinVar RCV002377895, AlphaMissense 0.09, MetaLR 0.95, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype
- A32T (p.Ala32Thr), gnomAD 15-63042923-G-A, REVEL 0.54, CADD 26.10
- A32V (p.Ala32Val), gnomAD 15-63042924-C-T, REVEL 0.50, CADD 24.00
- A32A (p.Ala32Ala), gnomAD 15-63042925-G-C, CADD 13.80
- A32D (p.Ala32Asp), rs1332959202, gnomAD 15-63043725-C-A, CADD 21.60
- A32G (p.Ala32Gly), rs1332959202, gnomAD 15-63043725-C-G, CADD 21.70
- E33A (p.Glu33Ala), rs886039444, ClinGen CA10588591, ClinVar RCV000255536, ClinVar RCV000543459, AlphaMissense 0.24, MetaLR 0.95, Uncertain significance, not provided; Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy
- E33G (p.Glu33Gly), NCI-TCGA Cosmic COSV5126, cosmic curated COSV51261, Variant assessed as somatic; moderate impact.
- E33K (p.Glu33Lys), rs397516397, ClinGen CA018447, NCI-TCGA Cosmic COSV1043, ClinVar RCV000036371, REVEL 0.73, CADD 33.00, Uncertain significance, not specified; Hypertrophic cardiomyopathy
- D34E (p.Asp34Glu), gnomAD 15-63042931-C-G, REVEL 0.33, CADD 22.40
- R35G (p.Arg35Gly), rs1596297347, ClinGen CA392718151, ClinVar RCV001371252, TOPMed rs1596297347, REVEL 0.56, CADD 23.20, Uncertain significance, Hypertrophic cardiomyopathy
- R35K (p.Arg35Lys), rs730881152, ClinGen CA272020239, ClinVar RCV000776457, ClinVar RCV001856129, REVEL 0.31, CADD 23.10, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- R35S (p.Arg35Ser), rs1448738061, ClinGen CA392718154, ClinVar RCV000852459, ClinVar RCV001170564, REVEL 0.49, CADD 22.60, Uncertain significance, Cardiomyopathy
- R35T (p.Arg35Thr), rs730881152, ClinGen CA018569, ClinVar RCV000159402, ClinVar RCV001850242, REVEL 0.43, CADD 25.10, Uncertain significance, not specified; not provided; Hypertrophic cardiomyopathy
- R35R (p.Arg35Arg), rs1596297347, gnomAD 15-63042932-A-C, CADD 14.80
- R35W (p.Arg35Trp), rs1376930088, gnomAD 15-63043742-C-T, CADD 22.20
- R35Q (p.Arg35Gln), gnomAD 15-63043743-G-A, CADD 22.00
- R35P (p.Arg35Pro), gnomAD 15-63043743-G-C, CADD 21.80
- R35L (p.Arg35Leu), gnomAD 15-63043743-G-T, CADD 21.70
- S36G (p.Ser36Gly), rs1566936237, ClinGen CA392718157, ClinVar RCV000769477, ClinVar RCV001258191, REVEL 0.56, CADD 23.90, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy
- S36N (p.Ser36Asn), rs1174194983, ClinGen CA392718159, cosmic curated COSV51265, ClinVar RCV001220169, REVEL 0.37, CADD 23.40, Uncertain significance, Hypertrophic cardiomyopathy
- S36T (p.Ser36Thr), gnomAD 15-63042936-G-C, REVEL 0.36, CADD 23.20
- S36R (p.Ser36Arg), gnomAD 15-63042937-C-A, REVEL 0.67, CADD 23.80
- K37E (p.Lys37Glu), rs199476303, ClinGen CA018576, ClinVar RCV000024593, ClinVar RCV001852576, AlphaMissense 0.41, MetaLR 0.87, Uncertain significance, Hypertrophic cardiomyopathy
- K37Q (p.Lys37Gln), rs199476303, ClinGen CA392718165, ClinVar RCV001300567, ClinVar RCV006548070, AlphaMissense 0.41, MetaLR 0.87, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- K37K (p.Lys37Lys), rs2140596743, gnomAD 15-63042940-G-A, CADD 14.70
- K37N (p.Lys37Asn), gnomAD 15-63042940-G-C, REVEL 0.37, CADD 22.50
- Q38E (p.Gln38Glu), rs1060501863, ClinGen CA16614859, ClinVar RCV000462958, ClinVar RCV001181135, AlphaMissense 0.12, MetaLR 0.86, Uncertain significance, Cardiomyopathy; Hypertrophic cardiomyopathy
- Q38R (p.Gln38Arg), gnomAD 15-63042941-CA-C, CADD 34.00
- Q38* (p.Gln38Ter), gnomAD 15-63042941-C-T, CADD 57.00
- Q38K (p.Gln38Lys), gnomAD 15-63042941-C-A, REVEL 0.32, CADD 23.80
- Q38Q (p.Gln38Gln), rs2031445986, gnomAD 15-63042943-G-A, CADD 32.00
- L39L (p.Leu39Leu), gnomAD 15-63043708-C-T, CADD 5.53
- E40* (p.Glu40Ter), rs104894501, ClinGen CA017874, ClinVar RCV000621859, ClinVar RCV000700155, CADD 22.10, Pathogenic, in CMD1Y
- E40K (p.Glu40Lys), rs104894501, ClinGen CA018647, cosmic curated COSV51263, ClinVar RCV000013275, CADD 22.20, Uncertain significance, Hypertrophic cardiomyopathy
- E40Q (p.Glu40Gln), rs104894501, ClinGen CA392718483, ClinVar RCV000488962, TOPMed rs104894501, CADD 22.10, Uncertain significance, not provided
- E40G (p.Glu40Gly), gnomAD 15-63043710-A-G, CADD 22.60
- E40D (p.Glu40Asp), gnomAD 15-63043711-G-T, CADD 21.50
- E40E (p.Glu40Glu), rs397516491, gnomAD 15-63043711-G-A, CADD 21.80
- D41E (p.Asp41Glu), Ensembl rs1029129685, Likely benign
- D41Y (p.Asp41Tyr), rs1448219045, gnomAD 15-63043715-G-T, CADD 22.20
- D41G (p.Asp41Gly), gnomAD 15-63043716-A-G, CADD 22.50
- E47del (p.Glu47del), gnomAD 15-63043727-AAGG-, CADD 21.70
- E42* (p.Glu42Ter), gnomAD 15-63043730-G-T, CADD 22.30
- E42G (p.Glu42Gly), gnomAD 15-63043731-A-G, CADD 22.50
- E42D (p.Glu42Asp), rs1042261478, gnomAD 15-63043732-G-C, CADD 22.00
- E42E (p.Glu42Glu), rs1042261478, gnomAD 15-63043732-G-A, CADD 22.20
- L43P (p.Leu43Pro), rs2031853048, ClinGen CA392718506, ClinVar RCV001090837, Ensembl rs2031853048, AlphaMissense 0.98, MetaLR 0.84, Likely pathogenic, not provided
- V44L (p.Val44Leu), gnomAD rs1406954948, REVEL 0.17, CADD 23.00
- V44M (p.Val44Met), gnomAD 15-63043745-G-A, CADD 21.90
- V44V (p.Val44Val), gnomAD 15-63043747-G-T, CADD 20.80
- V44E (p.Val44Glu), gnomAD 15-63043770-T-A, CADD 22.60
- V44A (p.Val44Ala), gnomAD 15-63043770-T-C, CADD 22.70
- S45* (p.Ser45Ter), rs2140627688, ClinGen CA392718518, ClinVar RCV001756495, Ensembl rs2140627688, Uncertain significance
- Q47E (p.Gln47Glu), rs2031854538, ClinGen CA392718526, ClinVar RCV001256204, Ensembl rs2031854538, AlphaMissense 0.15, MetaLR 0.38, Uncertain significance, Hypertrophic cardiomyopathy 3
- Q47R (p.Gln47Arg), rs1060501864, ClinGen CA16614465, ClinVar RCV000469579, ClinVar RCV001770332, AlphaMissense 0.29, MetaLR 0.44, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- K48E (p.Lys48Glu), NCI-TCGA Cosmic COSV9914, cosmic curated COSV99146, Variant assessed as somatic; moderate impact.
- K48N (p.Lys48Asn), gnomAD 15-63043729-G-T, CADD 19.50
- K48M (p.Lys48Met), gnomAD 15-63043734-A-T, CADD 22.40
- K48R (p.Lys48Arg), gnomAD 15-63043734-A-G, CADD 22.50
- K48K (p.Lys48Lys), gnomAD 15-63043735-G-A, CADD 21.60
- L50F (p.Leu50Phe), rs1060501866, ClinGen CA392718550, ClinVar RCV000530381, ClinVar RCV001755779, REVEL 0.76, AlphaMissense 0.17, Conflicting interpretations, Hypertrophic cardiomyopathy; not provided
- L50I (p.Leu50Ile), rs1060501866, ClinGen CA16614539, ClinVar RCV000464388, ClinVar RCV001712417, AlphaMissense 0.17, MetaLR 0.76, Conflicting interpretations, not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- L50M (p.Leu50Met), gnomAD 15-63043736-T-A, CADD 21.60
- L50L (p.Leu50Leu), rs1263243188, gnomAD 15-63043736-T-C, CADD 21.90
- L50S (p.Leu50Ser), gnomAD 15-63043737-T-C, CADD 22.40
- L50V (p.Leu50Val), gnomAD 15-63043739-C-G, CADD 19.90
- L50P (p.Leu50Pro), gnomAD 15-63043740-T-C, CADD 22.60
- K51R (p.Lys51Arg), rs1566937728, ClinGen CA392718559, ClinVar RCV000701909, ClinVar RCV001785704, AlphaMissense 0.09, MetaLR 0.43, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- K51T (p.Lys51Thr), rs1566937728, ClinGen CA392718558, ClinVar RCV001184914, Ensembl rs1566937728, AlphaMissense 0.09, MetaLR 0.43, Uncertain significance, Cardiomyopathy
- G52S (p.Gly52Ser), rs730881127, ClinGen CA018660, ClinVar RCV000159348, ClinVar RCV001178562, REVEL 0.31, CADD 23.80, Uncertain significance, not provided; Cardiomyopathy
- G52V (p.Gly52Val), ExAC rs757460987, gnomAD rs757460987, REVEL 0.33, CADD 21.80
- T53I (p.Thr53Ile), rs2140628162, ClinGen CA392718571, ClinVar RCV002008477, ClinVar RCV006458849, AlphaMissense 0.47, MetaLR 0.89, Uncertain significance, not provided; Hypertrophic cardiomyopathy
- E54K (p.Glu54Lys), rs104894505, ClinGen CA018668, NCI-TCGA Cosmic COSV1043, NCI-TCGA Cosmic COSV5125, CADD 22.40, Uncertain significance, Dilated cardiomyopathy 1Y
- E54* (p.Glu54Ter), gnomAD 15-63043751-G-T, CADD 22.30
- E54G (p.Glu54Gly), gnomAD 15-63043752-A-G, CADD 22.40
- E54V (p.Glu54Val), rs730881132, gnomAD 15-63043752-A-T, CADD 22.30
- E54E (p.Glu54Glu), gnomAD 15-63043753-G-A, CADD 21.20
- D55G (p.Asp55Gly), rs1566937759, ClinGen CA392718582, ClinVar RCV000706303, ClinVar RCV001170565, CADD 22.70, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- D55N (p.Asp55Asn), rs397516363, ClinGen CA017879, ClinVar RCV000036316, ClinVar RCV005252709, CADD 22.50, Conflicting interpretations, Dilated cardiomyopathy 1Y; Primary dilated cardiomyopathy
- D55Y (p.Asp55Tyr), rs397516363, ClinGen CA392718580, ClinVar RCV000852460, Ensembl rs397516363, CADD 22.40, Likely pathogenic, Cardiomyopathy
- D55E (p.Asp55Glu), gnomAD 15-63043756-C-G, CADD 20.70
- D55D (p.Asp55Asp), gnomAD 15-63043756-C-T, CADD 21.00
- p.Glu56 Asp69del, rs768145451, gnomAD 15-63043748-TCGGA, CADD 21.30
- E56* (p.Glu56Ter), rs1250358279, gnomAD 15-63043757-G-T, CADD 22.00
- E56K (p.Glu56Lys), gnomAD 15-63043757-G-A, CADD 22.20
- E56G (p.Glu56Gly), gnomAD 15-63043758-A-G, CADD 22.50
- E56D (p.Glu56Asp), gnomAD 15-63043759-G-T, CADD 21.60
- D58H (p.Asp58His), rs199476304, ClinGen CA018682, ClinVar RCV000024571, ClinVar RCV000456653, AlphaMissense 0.83, MetaLR 0.98, Uncertain significance, Hypertrophic cardiomyopathy
- D58T (p.Asp58Thr), gnomAD 15-63043760-CG-C, CADD 21.80
- D58N (p.Asp58Asn), gnomAD 15-63043763-G-A, CADD 22.50
- D58Y (p.Asp58Tyr), gnomAD 15-63043763-G-T, CADD 22.40
- D58E (p.Asp58Glu), gnomAD 15-63043765-C-A, CADD 21.90
- D58D (p.Asp58Asp), rs74573041, gnomAD 15-63043765-C-T, CADD 22.20
- K59T (p.Lys59Thr), TOPMed rs2031861291, REVEL 0.46, CADD 23.90
- Y60C (p.Tyr60Cys), rs1596303148, ClinGen CA392718618, NCI-TCGA Cosmic COSV5126, cosmic curated COSV51263, AlphaMissense 0.31, MetaLR 0.68, Likely pathogenic, Hypertrophic cardiomyopathy 1
- Y60H (p.Tyr60His), rs2031862156, ClinGen CA392718616, ClinVar RCV001304952, Ensembl rs2031862156, AlphaMissense 0.48, MetaLR 0.66, Uncertain significance, Hypertrophic cardiomyopathy
- S61C (p.Ser61Cys), rs2031863455, ClinGen CA392718626, ClinVar RCV001045668, ClinVar RCV003532356, REVEL 0.61, CADD 24.80, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy; not provided
- S61L (p.Ser61Leu), NCI-TCGA Cosmic COSV5126, Variant assessed as somatic; high impact.
- S61P (p.Ser61Pro), rs2031863016, ClinGen CA392718623, ClinVar RCV001304326, Ensembl rs2031863016, AlphaMissense 0.97, MetaLR 0.63, Uncertain significance, Hypertrophic cardiomyopathy
Public TPM1 analysis runs
- TPM1 analysis run — TPM1 (541 variants) — completed 2026-08-21