G8V (p.Gly8Val) variant of DSC2 (Desmocollin-2)
G8V (p.Gly8Val) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- rs794728063
- ClinGen CA022721
- ClinVar RCV000181133
- ClinVar RCV000769506
- Conflicting interpretations
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.05
- CADD 17.40
- PolyPhen-2 0.30
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- 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)