DSC2 (Desmocollin-2) variants and mutations
DSC2 (also known as Desmocollin-2) is a human protein-coding gene encoding a desmocollin-2 protein. Its desmosomal adhesion helps cardiomyocytes remain mechanically coupled during repeated contraction. Pathogenic variants can weaken cardiac junctions and contribute to arrhythmogenic cardiomyopathy. This analysis covers 1,707 DSC2 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Arrhythmogenic right ventricular dysplasia, familial isolated arrhythmogenic right ventricular dysplasia, and arrhythmogenic right ventricular cardiomyopathy. Example DSC2 variants include M1R, M1V, and E2K.
Variant analysis overview
- Gene: DSC2
- Protein: Desmocollin-2
- UniProt accession: Q02487
- Organism: Homo sapiens
- Variants analyzed: 1707
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,440 unspecified-consequence records; 2 stop retained variant; 2 stop lost; 88 missense variants; 122 synonymous variants; 33 frameshift variants; 4 in-frame deletions; 3 splice-region variants; 5 stop-gained variants; 2 protein altering variant; 6 substitution
- Prediction scores: 1,327 variants have prediction scores (78% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Arrhythmogenic right ventricular dysplasia, familial isolated arrhythmogenic right ventricular dysplasia, arrhythmogenic right ventricular cardiomyopathy, Abnormality of the cardiovascular system, neurodegenerative disease, atrial fibrillation, cardiomyopathy, familial isolated arrhythmogenic ventricular dysplasia, left dominant form, familial isolated arrhythmogenic ventricular dysplasia, biventricular form, wooly hair-palmoplantar keratoderma syndrome, familial isolated arrhythmogenic ventricular dysplasia, right dominant form, dilated cardiomyopathy 1A.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 5 domains; 8 post-translational modification sites.
- Structural context: 1,007 variants have structural context.
- PTM context: 14 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, MaveDB, LitVar.
Notable DSC2 variants
Examples include M1R, M1V, E2K, A4V, R5C, R5G, R5L, P6A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1R (p.Met1Arg), rs1289006731, ClinGen CA402115334, ClinVar RCV003632723, MetaLR 0.25, MetaSVM -0.66, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- M1V (p.Met1Val), rs1026402319, ClinGen CA402115338, ClinVar RCV001188139, ClinVar RCV001337930, MetaLR 0.12, MetaSVM -0.93, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- E2K (p.Glu2Lys), rs762556795, ClinGen CA022856, ClinVar RCV000181170, ClinVar RCV000546172, REVEL 0.26, CADD 23.50, Conflicting interpretations, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- A4V (p.Ala4Val), rs1196096745, ClinGen CA402115312, ClinVar RCV003225459, ClinVar RCV006474067, REVEL 0.10, CADD 17.90, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; not provided
- R5C (p.Arg5Cys), Ensembl rs1987978697, Likely benign
- R5G (p.Arg5Gly), rs1987978697, ClinGen CA402115311, ClinVar RCV001183572, Ensembl rs1987978697, REVEL 0.02, CADD 0.66, Likely benign, Cardiomyopathy
- R5L (p.Arg5Leu), rs899009158, ClinGen CA297652484, ClinVar RCV001126682, ClinVar RCV001176570, REVEL 0.04, CADD 12.60, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- P6A (p.Pro6Ala), rs2510964062, ClinGen CA402115305, ClinVar RCV003045744, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- P6L (p.Pro6Leu), rs1378826078, ClinGen CA402115301, ClinVar RCV002028838, ClinVar RCV005401908, REVEL 0.01, CADD 15.30, Uncertain significance, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 11
- P6R (p.Pro6Arg), 1000Genomes rs1378826078, TOPMed rs1378826078, gnomAD rs1378826078, REVEL 0.08, CADD 19.10, Uncertain significance
- P6S (p.Pro6Ser), rs2510964062, ClinGen CA402115304, ClinVar RCV003632641, REVEL 0.02, CADD 3.92, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- S7F (p.Ser7Phe), rs1227564823, ClinGen CA402115296, ClinVar RCV001187384, ClinVar RCV002559127, REVEL 0.04, CADD 12.00, Conflicting interpretations, Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar
- S7P (p.Ser7Pro), rs774977340, ClinGen CA034235, ClinVar RCV001986151, ExAC rs774977340, REVEL 0.05, CADD 0.06, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- G8S (p.Gly8Ser), rs1555641325, ClinGen CA402115294, ClinVar RCV000644630, gnomAD rs1555641325, REVEL 0.04, CADD 0.14, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- G8V (p.Gly8Val), rs794728063, ClinGen CA022721, ClinVar RCV000181133, ClinVar RCV000769506, REVEL 0.05, CADD 17.40, Conflicting interpretations, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- S9C (p.Ser9Cys), rs794728064, ClinGen CA022768, ClinVar RCV000181134, ClinVar RCV001804911, REVEL 0.03, CADD 9.58, Uncertain significance, not provided; Cardiomyopathy
- W10* (p.Trp10Ter), rs1555641322, ClinGen CA402115277, ClinVar RCV001823351, ClinVar RCV002545189, CADD 34.00, Pathogenic
- W10C (p.Trp10Cys), rs1555641322, ClinGen CA402115279, ClinVar RCV000621556, ClinVar RCV001190259, REVEL 0.08, CADD 15.40, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- W10R (p.Trp10Arg), rs1987977039, ClinGen CA402115284, ClinVar RCV001188825, ClinVar RCV002295335, REVEL 0.03, CADD 0.14, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy
- N11K (p.Asn11Lys), Ensembl rs1987976628, REVEL 0.07, CADD 8.48, Likely benign
- N11S (p.Asn11Ser), rs868333, ClinGen CA022796, cosmic curated COSV10723, ClinVar RCV000039434, REVEL 0.15, CADD 6.21, Benign, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- G12R (p.Gly12Arg), rs568391206, ClinGen CA022807, ClinVar RCV000181171, ClinVar RCV001085942, REVEL 0.29, CADD 18.80, Conflicting interpretations, Cardiomyopathy; Cardiovascular phenotype; Familial isolated arrhythmogenic right
- A13V (p.Ala13Val), rs1404155315, ClinGen CA402115260, ClinVar RCV001763226, ClinVar RCV002538832, REVEL 0.01, CADD 15.30, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia; not provided; Arrh
- L14F (p.Leu14Phe), gnomAD rs1387586684, Uncertain significance, Cardiovascular phenotype
- L14R (p.Leu14Arg), rs2510964017, ClinGen CA402115254, ClinVar RCV004012219, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- L14V (p.Leu14Val), gnomAD rs1387586684, REVEL 0.03, CADD 15.60
- R16G (p.Arg16Gly), rs1987975647, ClinGen CA402115245, ClinVar RCV003631505, ClinVar RCV005554994, REVEL 0.05, CADD 2.83, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- R16P (p.Arg16Pro), rs869025386, ClinGen CA353990, ClinVar RCV000208353, TOPMed rs869025386, AlphaMissense 0.14, MetaLR 0.09, Likely benign
- R16Q (p.Arg16Gln), rs869025386, ClinGen CA402115243, ClinVar RCV000774443, ClinVar RCV002334444, REVEL 0.12, AlphaMissense 0.14, Conflicting interpretations, Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- R16W (p.Arg16Trp), rs1987975647, ClinGen CA402115244, ClinVar RCV001180515, ClinVar RCV004006664, REVEL 0.05, CADD 6.37, Uncertain significance, not provided; Cardiomyopathy; Familial isolated arrhythmogenic right ventricular
- L18R (p.Leu18Arg), rs2510963997, ClinGen CA402115231, ClinVar RCV004014931, ClinVar RCV005325900, REVEL 0.33, CADD 24.40, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- T21I (p.Thr21Ile), rs931909783, ClinGen CA402115216, ClinVar RCV003870061, REVEL 0.23, CADD 22.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- T21N (p.Thr21Asn), rs931909783, ClinGen CA297652454, ClinVar RCV001182902, ClinVar RCV001876079, REVEL 0.11, CADD 22.40, Uncertain significance, Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 11
- A23G (p.Ala23Gly), rs1478050070, ClinGen CA402115205, ClinVar RCV003994632, AlphaMissense 0.12, MetaLR 0.08, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- A23V (p.Ala23Val), rs1478050070, ClinGen CA402115206, ClinVar RCV002378051, ClinVar RCV005403206, REVEL 0.05, AlphaMissense 0.12, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype
- I24F (p.Ile24Phe), rs1228372400, ClinGen CA402115189, ClinVar RCV002721441, AlphaMissense 0.07, MetaLR 0.06, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- I24L (p.Ile24Leu), rs1228372400, ClinGen CA402115191, ClinVar RCV004016062, AlphaMissense 0.07, MetaLR 0.06, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- I24M (p.Ile24Met), ExAC rs757826575, gnomAD rs757826575, REVEL 0.19, CADD 21.00, Likely benign
- I24N (p.Ile24Asn), rs2144850570, ClinGen CA402115188, ClinVar RCV001524360, Ensembl rs2144850570, AlphaMissense 0.26, MetaLR 0.29, Uncertain significance, Cardiomyopathy
- I24V (p.Ile24Val), rs1228372400, ClinGen CA402115190, ClinVar RCV001805399, ClinVar RCV002541430, REVEL 0.03, AlphaMissense 0.07, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom
- I26L (p.Ile26Leu), rs1362597154, ClinGen CA402115176, ClinVar RCV003533612, ClinVar RCV004011611, REVEL 0.07, CADD 13.80, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Familia
- I26M (p.Ile26Met), rs1304893383, ClinGen CA402115172, ClinVar RCV004014051, TOPMed rs1304893383, REVEL 0.09, CADD 10.80, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- I26V (p.Ile26Val), rs1362597154, ClinGen CA402115177, ClinVar RCV003518404, TOPMed rs1362597154, REVEL 0.08, CADD 12.80, Likely benign, Cardiomyopathy
- A28D (p.Ala28Asp), rs865966331, ClinGen CA402115161, ClinVar RCV002434895, REVEL 0.33, CADD 20.30, Uncertain significance, Cardiovascular phenotype
- A28S (p.Ala28Ser), rs139979318, ClinGen CA040172, ClinVar RCV000223928, ClinVar RCV000246853, REVEL 0.05, CADD 8.54, Conflicting interpretations, Cardiovascular phenotype; Primary familial dilated cardiomyopathy; Familial isol
- A28V (p.Ala28Val), rs865966331, ClinGen CA297645681, ClinVar RCV004008095, Ensembl rs865966331, REVEL 0.13, CADD 15.50, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- S29C (p.Ser29Cys), ExAC rs764796476, gnomAD rs764796476
- S29I (p.Ser29Ile), Ensembl rs2144850493, Uncertain significance, Cardiomyopathy
- S29R (p.Ser29Arg), ExAC rs764796476, gnomAD rs764796476
- D30H (p.Asp30His), NCI-TCGA Cosmic COSV5186, cosmic curated COSV51865, Variant assessed as somatic; moderate impact.
- D30N (p.Asp30Asn), rs1987673824, ClinGen CA402115152, ClinVar RCV001189855, ClinVar RCV004010392, REVEL 0.23, CADD 19.00, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrhythmogenic right
- D30V (p.Asp30Val), Ensembl rs2144850479
- D30Y (p.Asp30Tyr), NCI-TCGA Cosmic COSV5186, REVEL 0.44, CADD 23.80, Variant assessed as somatic; moderate impact.
- C32Y (p.Cys32Tyr), Ensembl rs2144850464, REVEL 0.36, CADD 23.70
- K33R (p.Lys33Arg), rs2510957254, ClinGen CA402115127, ClinVar RCV004012545, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- N34K (p.Asn34Lys), ExAC rs759166097, gnomAD rs759166097, REVEL 0.03, CADD 0.00
- N34M (p.Asn34Met), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N34T (p.Asn34Thr), TOPMed rs1278118453, gnomAD rs1278118453, REVEL 0.02, CADD 10.00, Uncertain significance, Cardiomyopathy
- V35M (p.Val35Met), TOPMed rs1987673089, REVEL 0.26, CADD 15.20
- T36A (p.Thr36Ala), rs2144850401, ClinGen CA402115108, ClinVar RCV001887928, Ensembl rs2144850401, AlphaMissense 0.09, MetaLR 0.12, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- H38Q (p.His38Gln), rs1987672342, ClinGen CA16622092, ClinVar RCV001898822, Ensembl rs1987672342, REVEL 0.09, CADD 13.30, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- V39A (p.Val39Ala), NCI-TCGA Cosmic COSV9919, cosmic curated COSV99199, Variant assessed as somatic; moderate impact.
- V39I (p.Val39Ile), rs1447651355, ClinGen CA402115089, ClinVar RCV000644637, ClinVar RCV001187678, REVEL 0.11, CADD 19.00, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Familial isolated arrhythmogenic
- P40A (p.Pro40Ala), TOPMed rs1987671927, gnomAD rs1987671927, REVEL 0.44, CADD 24.00, Uncertain significance
- P40L (p.Pro40Leu), Ensembl rs1022171817, REVEL 0.52, AlphaMissense 0.21, Uncertain significance, not provided
- P40R (p.Pro40Arg), rs1022171817, ClinGen CA402115079, ClinVar RCV004013109, AlphaMissense 0.21, MetaLR 0.33, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- P40S (p.Pro40Ser), cosmic curated COSV10456, TOPMed rs1987671927, gnomAD rs1987671927, REVEL 0.44, CADD 24.50, Uncertain significance
- P40T (p.Pro40Thr), rs1987671927, ClinGen CA402115081, ClinVar RCV002900057, ClinVar RCV003533309, REVEL 0.46, CADD 24.30, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar
- S41F (p.Ser41Phe), rs772104020, ClinGen CA030336, ClinVar RCV003533611, ExAC rs772104020, REVEL 0.48, CADD 24.90, Uncertain significance, Cardiomyopathy
- S41P (p.Ser41Pro), rs2144850316, ClinGen CA402115077, ClinVar RCV001805556, Ensembl rs2144850316, REVEL 0.36, CADD 23.00, Uncertain significance, Cardiomyopathy
- K42* (p.Lys42Ter), Ensembl rs1987671371
- L43P (p.Leu43Pro), rs2510957197, ClinGen CA402115062, ClinVar RCV003632082, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- D44G (p.Asp44Gly), rs2510957192, ClinGen CA402115056, ClinVar RCV004016345, ClinVar RCV006551046, REVEL 0.07, CADD 23.50, Uncertain significance, Cardiomyopathy; Familial isolated arrhythmogenic right ventricular dysplasia
- D44N (p.Asp44Asn), TOPMed rs1824034701, REVEL 0.04, CADD 18.90, Uncertain significance, Cardiovascular phenotype
- A45T (p.Ala45Thr), rs1467311353, ClinGen CA402115052, ClinVar RCV001180351, ClinVar RCV001875984, REVEL 0.23, CADD 24.80, Conflicting interpretations, Cardiovascular phenotype; not provided; Familial isolated arrhythmogenic right v
- E46G (p.Glu46Gly), Ensembl rs2144850228, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- E46K (p.Glu46Lys), rs180908546, ClinGen CA031153, cosmic curated COSV51870, ClinVar RCV000644631, REVEL 0.09, CADD 15.70, Conflicting interpretations, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- K47E (p.Lys47Glu), NCI-TCGA Cosmic COSV5186, cosmic curated COSV51864, Variant assessed as somatic; moderate impact.
- L48F (p.Leu48Phe), rs769776739, ClinGen CA031343, ClinVar RCV000476734, ClinVar RCV001181378, REVEL 0.04, CADD 11.90, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- L48V (p.Leu48Val), rs769776739, ClinGen CA402115030, ClinVar RCV002012410, ExAC rs769776739, REVEL 0.03, CADD 13.00, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- V49A (p.Val49Ala), rs1275514075, ClinGen CA402115022, ClinVar RCV001192239, ClinVar RCV003517316, REVEL 0.33, CADD 24.20, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Familial isolated arrhythmogenic
- V49F (p.Val49Phe), gnomAD rs1484062748, REVEL 0.32, CADD 20.90, Uncertain significance, Cardiovascular phenotype
- G50D (p.Gly50Asp), rs397517391, ClinGen CA022474, cosmic curated COSV51865, ClinVar RCV000039407, REVEL 0.50, CADD 24.00, Conflicting interpretations, Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- V52A (p.Val52Ala), rs1987629779, ClinGen CA402114995, ClinVar RCV001186355, ClinVar RCV002559932, REVEL 0.60, CADD 29.80, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy
- V52D (p.Val52Asp), rs1987629779, ClinGen CA402114996, ClinVar RCV003043372, REVEL 0.69, CADD 32.00, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- V52F (p.Val52Phe), ExAC rs757588306, TOPMed rs757588306, gnomAD rs757588306, REVEL 0.51, CADD 34.00, Uncertain significance
- V52I (p.Val52Ile), rs757588306, ClinGen CA032040, ClinVar RCV003632626, ExAC rs757588306, REVEL 0.34, CADD 33.00, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- N53I (p.Asn53Ile), rs942652496, ClinGen CA297644562, ClinVar RCV002398392, ClinVar RCV003517417, AlphaMissense 0.27, MetaLR 0.28, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- K55I (p.Lys55Ile), rs2144847063, ClinGen CA402114976, ClinVar RCV001754889, Ensembl rs2144847063, AlphaMissense 0.31, MetaLR 0.14, Uncertain significance, not provided
- K55N (p.Lys55Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E56D (p.Glu56Asp), rs1555640202, ClinGen CA402114967, ClinVar RCV000644647, Ensembl rs1555640202, REVEL 0.04, CADD 7.37, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- C57* (p.Cys57Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- F58C (p.Phe58Cys), rs2510956310, ClinGen CA402114954, ClinVar RCV003042745, REVEL 0.33, CADD 28.20, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- F58L (p.Phe58Leu), rs138749562, ClinGen CA402114956, ClinVar RCV001177190, 1000Genomes rs138749562, AlphaMissense 0.42, MetaLR 0.06, Likely benign, Cardiomyopathy
- F58V (p.Phe58Val), rs138749562, ClinGen CA022550, ClinVar RCV000150527, ClinVar RCV000725685, REVEL 0.05, AlphaMissense 0.42, Conflicting interpretations, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- T59I (p.Thr59Ile), rs544457730, ClinGen CA033196, ClinVar RCV002401801, ClinVar RCV005405913, REVEL 0.05, CADD 16.30, Conflicting interpretations, not specified; Cardiovascular phenotype; Cardiomyopathy
- A60D (p.Ala60Asp), Ensembl rs1987628708
- A61E (p.Ala61Glu), rs758707293, ClinGen CA297644507, ClinVar RCV001190060, ClinVar RCV002411715, REVEL 0.21, AlphaMissense 0.35, Uncertain significance, Cardiomyopathy; Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl
- A61G (p.Ala61Gly), rs758707293, ClinGen CA033383, ClinVar RCV000794878, ClinVar RCV002406739, REVEL 0.21, AlphaMissense 0.35, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- A61T (p.Ala61Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A61V (p.Ala61Val), rs758707293, ClinGen CA402114936, ClinVar RCV003631652, AlphaMissense 0.35, MetaLR 0.22, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- N62K (p.Asn62Lys), rs748644229, ClinGen CA033456, ClinVar RCV001212326, ClinVar RCV004010688, REVEL 0.12, CADD 13.80, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Familial isolated arrhythmogenic
- N62S (p.Asn62Ser), NCI-TCGA Cosmic COSV5186, cosmic curated COSV51864, Variant assessed as somatic; moderate impact.
- L63V (p.Leu63Val), Ensembl rs1987628241, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- I64T (p.Ile64Thr), rs2510956267, ClinGen CA402114920, ClinVar RCV004012088, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- I64V (p.Ile64Val), ExAC rs779324250, gnomAD rs779324250
- H65D (p.His65Asp), rs2144846957, ClinGen CA402114916, ClinVar RCV002039714, ClinVar RCV004038869, AlphaMissense 0.12, MetaLR 0.12, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype
- S67N (p.Ser67Asn), rs374613780, ClinGen CA034248, cosmic curated COSV51865, ClinVar RCV004013409, REVEL 0.14, CADD 20.40, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia; Arrhythmogenic rig
- D68H (p.Asp68His), ExAC rs753454991, gnomAD rs753454991, REVEL 0.48, CADD 25.40
- D68N (p.Asp68Asn), NCI-TCGA Cosmic COSV5186, cosmic curated COSV51866, Variant assessed as somatic; moderate impact.
- P69H (p.Pro69His), cosmic curated COSV99199, gnomAD rs1987627582, REVEL 0.34, CADD 26.00
- P69S (p.Pro69Ser), rs1987627721, ClinGen CA402114887, NCI-TCGA Cosmic COSV5186, cosmic curated COSV51860, REVEL 0.30, AlphaMissense 0.11, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Cardiomyopathy; Familial isolated
- P69T (p.Pro69Thr), rs1987627721, ClinGen CA402114889, ClinVar RCV003845748, AlphaMissense 0.11, MetaLR 0.42, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- D70E (p.Asp70Glu), Ensembl rs1467567461, REVEL 0.22, CADD 22.50
- D70H (p.Asp70His), ExAC rs779847119, gnomAD rs779847119, REVEL 0.10, CADD 24.10
- F71C (p.Phe71Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F71L (p.Phe71Leu), rs755760151, ClinGen CA402114869, ClinVar RCV004015064, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- F71V (p.Phe71Val), rs1256444177, ClinGen CA402114874, ClinVar RCV003053019, ClinVar RCV003533334, REVEL 0.81, CADD 26.90, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; not provided; Familial isolated a
- Q72E (p.Gln72Glu), gnomAD rs1269634348, REVEL 0.03, CADD 22.10
- Q72H (p.Gln72His), rs767293228, ClinGen CA035235, ClinVar RCV001961412, ClinVar RCV002425344, REVEL 0.10, CADD 14.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype
- I73V (p.Ile73Val), rs2510956224, ClinGen CA402114860, ClinVar RCV003533610, Uncertain significance, Cardiomyopathy
- L74F (p.Leu74Phe), rs2144846839, ClinGen CA402114848, ClinVar RCV001994120, Ensembl rs2144846839, AlphaMissense 0.09, MetaLR 0.16, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- L74S (p.Leu74Ser), gnomAD rs1987626757, REVEL 0.33, CADD 26.50, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- E75D (p.Glu75Asp), rs2144846829, ClinGen CA402114840, ClinVar RCV004014746, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- G77D (p.Gly77Asp), rs761544006, ClinGen CA402114828, ClinVar RCV001176382, ClinVar RCV004032995, AlphaMissense 0.82, MetaLR 0.85, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy
- G77S (p.Gly77Ser), rs2510956199, ClinGen CA402114831, ClinVar RCV003518820, NCI-TCGA Cosmic COSV9919, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- G77V (p.Gly77Val), rs761544006, ClinGen CA036157, ClinVar RCV001175927, ClinVar RCV003631178, REVEL 0.83, AlphaMissense 0.82, Uncertain significance, Cardiomyopathy; Familial isolated arrhythmogenic right ventricular dysplasia; Ar
- S78L (p.Ser78Leu), Ensembl rs866964391
- V79G (p.Val79Gly), rs886038828, ClinGen CA10587908, ClinVar RCV000251340, ClinVar RCV003999012, REVEL 0.63, CADD 26.50, Uncertain significance, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Y80C (p.Tyr80Cys), rs369761766, ClinGen CA036601, ClinVar RCV001302916, ClinVar RCV002447297, REVEL 0.26, CADD 24.60, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype; not spe
- T82I (p.Thr82Ile), TOPMed rs1267065182, gnomAD rs1267065182, REVEL 0.14, CADD 23.50, Uncertain significance
- T82K (p.Thr82Lys), rs1267065182, ClinGen CA402114799, ClinVar RCV002430726, ClinVar RCV003228083, REVEL 0.05, CADD 22.30, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- N83S (p.Asn83Ser), rs1226238061, ClinGen CA402114793, ClinVar RCV002430906, ClinVar RCV004808342, REVEL 0.10, CADD 14.80, Uncertain significance, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- T84S (p.Thr84Ser), rs2510956151, ClinGen CA402114786, ClinVar RCV004012399, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- I85T (p.Ile85Thr), rs2510956145, ClinGen CA402114779, ClinVar RCV003043306, REVEL 0.15, CADD 17.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- I85V (p.Ile85Val), rs1567982899, ClinGen CA402114783, ClinVar RCV001176171, Ensembl rs1567982899, REVEL 0.09, CADD 0.32, Likely benign, Cardiomyopathy
- L86P (p.Leu86Pro), ExAC rs763988877, gnomAD rs763988877, REVEL 0.38, CADD 17.10
- S88F (p.Ser88Phe), gnomAD rs1322504325
- S88T (p.Ser88Thr), gnomAD rs1365349299
- S89L (p.Ser89Leu), rs141379407, ClinGen CA037529, ClinVar RCV000555831, ClinVar RCV001177887, REVEL 0.10, CADD 17.60, Conflicting interpretations, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- E90* (p.Glu90Ter), rs1987624232, ClinGen CA402114754, ClinVar RCV001038836, ClinVar RCV004017778, Pathogenic
- K91E (p.Lys91Glu), ExAC rs760833378, gnomAD rs760833378, REVEL 0.02, CADD 17.30, Uncertain significance, Cardiomyopathy
- K91N (p.Lys91Asn), NCI-TCGA TCGA novel, REVEL 0.12, CADD 22.70, Variant assessed as somatic; moderate impact.
- R92G (p.Arg92Gly), NCI-TCGA Cosmic COSV5186, Variant assessed as somatic; moderate impact.
- R92I (p.Arg92Ile), rs894057474, ClinGen CA402114736, ClinVar RCV003171386, ClinVar RCV006473821, REVEL 0.25, CADD 24.40, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- R92K (p.Arg92Lys), rs894057474, ClinGen CA297644385, ClinVar RCV004013374, ClinVar RCV005555100, REVEL 0.03, CADD 15.90, Uncertain significance, Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrhythmogenic right
- S93N (p.Ser93Asn), rs1987623727, ClinGen CA402114730, NCI-TCGA Cosmic COSV9919, cosmic curated COSV99199, AlphaMissense 0.07, MetaLR 0.08, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- I96L (p.Ile96Leu), rs772447450, ClinGen CA402114711, ClinVar RCV003146862, ExAC rs772447450, AlphaMissense 0.10, MetaLR 0.11, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- I96T (p.Ile96Thr), TOPMed rs1320040048, gnomAD rs1320040048, REVEL 0.78, CADD 26.00, Uncertain significance, not provided
- I96V (p.Ile96Val), rs772447450, ClinGen CA037600, ClinVar RCV000457866, ClinVar RCV000776323, REVEL 0.14, AlphaMissense 0.10, Uncertain significance, Cardiovascular phenotype; not specified; Familial isolated arrhythmogenic right
- L98P (p.Leu98Pro), TOPMed rs1987623041, Uncertain significance, not provided
- S99F (p.Ser99Phe), rs1191093439, ClinGen CA402114688, cosmic curated COSV51865, ClinVar RCV003518411, REVEL 0.07, CADD 19.60, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom
- S99T (p.Ser99Thr), rs199714872, ClinGen CA037617, ClinVar RCV000707151, ClinVar RCV001188195, REVEL 0.03, CADD 18.60, Conflicting interpretations, Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrhythmogenic right
- S99Y (p.Ser99Tyr), rs1191093439, ClinGen CA402114690, ClinVar RCV002442073, ClinVar RCV003775432, REVEL 0.10, CADD 18.90, Conflicting interpretations, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- N100D (p.Asn100Asp), TOPMed rs996869605
- N100K (p.Asn100Lys), Ensembl rs1299769025, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- T101A (p.Thr101Ala), rs1372970572, ClinGen CA402114679, ClinVar RCV001912709, ClinVar RCV003533050, REVEL 0.10, CADD 14.20, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom
- T101N (p.Thr101Asn), rs2510956039, ClinGen CA402114676, ClinVar RCV004016113, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia
- T101P (p.Thr101Pro), TOPMed rs1372970572, gnomAD rs1372970572, Uncertain significance
- E102D (p.Glu102Asp), rs2510956021, ClinGen CA402114669, ClinVar RCV003533609, Uncertain significance, Cardiomyopathy
- E102K (p.Glu102Lys), rs144799937, ClinGen CA022786, ClinVar RCV000039432, ClinVar RCV000148467, REVEL 0.28, CADD 17.70, Conflicting interpretations, Cardiovascular phenotype; not specified; Familial isolated arrhythmogenic right
- N103K (p.Asn103Lys), rs1484070582, ClinGen CA402114661, ClinVar RCV001057845, ClinVar RCV002320307, AlphaMissense 0.11, MetaLR 0.04, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- Q104K (p.Gln104Lys), rs2510956015, ClinGen CA402114659, ClinVar RCV002326065, REVEL 0.09, CADD 20.40, Uncertain significance, Cardiovascular phenotype
- Q104L (p.Gln104Leu), rs1987621652, ClinGen CA402114654, ClinVar RCV001307875, Ensembl rs1987621652, AlphaMissense 0.10, MetaLR 0.13, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- E105* (p.Glu105Ter), NCI-TCGA Cosmic COSV5186, cosmic curated COSV51863, NCI-TCGA Cosmic COSV9919, Variant assessed as somatic; high impact.
- E105K (p.Glu105Lys), NCI-TCGA Cosmic COSV5186, NCI-TCGA Cosmic COSV9919, cosmic curated COSV99199, Variant assessed as somatic; moderate impact.
- K106N (p.Lys106Asn), rs769350996, ClinGen CA037659, ClinVar RCV002828201, ExAC rs769350996, REVEL 0.03, CADD 18.30, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- K107N (p.Lys107Asn), rs140856220, ClinGen CA037677, ClinVar RCV000254167, ClinVar RCV000786114, REVEL 0.32, CADD 23.70, Uncertain significance, Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- K107Q (p.Lys107Gln), Ensembl rs1987621356
- K107R (p.Lys107Arg), rs1743965498, ClinGen CA402114632, ClinVar RCV004013769, ClinVar RCV005064975, REVEL 0.02, CADD 14.80, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar
- K108E (p.Lys108Glu), rs2510956005, ClinGen CA402114627, ClinVar RCV003297440, Uncertain significance, Cardiovascular phenotype
- K108N (p.Lys108Asn), rs779651366, NCI-TCGA Cosmic COSV9919, cosmic curated COSV99199, ClinGen CA402114622, REVEL 0.04, CADD 13.70, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- I109L (p.Ile109Leu), rs1256252633, ClinGen CA402114621, ClinVar RCV000620914, ClinVar RCV000786113, REVEL 0.05, CADD 13.60, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype; not pro
- I109M (p.Ile109Met), rs373305929, ClinGen CA022791, ClinVar RCV000039433, ClinVar RCV000625301, REVEL 0.06, CADD 1.88, Conflicting interpretations, Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- F110I (p.Phe110Ile), TOPMed rs1987620757
- F110L (p.Phe110Leu), rs1987620757, ClinGen CA402114615, ClinVar RCV003066528, ClinVar RCV005824423, REVEL 0.03, CADD 8.60, Conflicting interpretations, Arrhythmogenic right ventricular dysplasia 11; Cardiovascular phenotype
- V111G (p.Val111Gly), rs2510955973, ClinGen CA402114602, ClinVar RCV002756044, REVEL 0.49, CADD 26.30, Uncertain significance, Arrhythmogenic right ventricular dysplasia 11
- V111L (p.Val111Leu), rs1987620497, ClinGen CA402114607, ClinVar RCV001179468, ClinVar RCV004006566, AlphaMissense 0.31, MetaLR 0.25, Uncertain significance, Familial isolated arrhythmogenic right ventricular dysplasia; Arrhythmogenic rig
- F112I (p.Phe112Ile), NCI-TCGA Cosmic COSV5186, cosmic curated COSV51862, REVEL 0.04, CADD 12.40, Variant assessed as somatic; moderate impact.
- Q116E (p.Gln116Glu), rs1987619959, ClinGen CA402114570, ClinVar RCV001126681, ClinVar RCV005328537, AlphaMissense 0.07, MetaLR 0.12, Uncertain significance, Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
Public DSC2 analysis runs
- DSC2 analysis run — DSC2 (1,707 variants) — completed 2026-08-18