G50D (p.Gly50Asp) variant of DSC2 (Desmocollin-2)
G50D (p.Gly50Asp) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- rs397517391
- ClinGen CA022474
- cosmic curated COSV51865
- ClinVar RCV000039407
- Conflicting interpretations
- Familial isolated arrhythmogenic right ventricular dysplasia; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.50
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial isolated arrhythmogenic right ventricular dysplasia; Ca)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)