G12R (p.Gly12Arg) variant of DSC2 (Desmocollin-2)
G12R (p.Gly12Arg) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; Cardiovascular phenotype; Familial isolated arrhythmogenic right. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs568391206
- ClinGen CA022807
- ClinVar RCV000181171
- ClinVar RCV001085942
- Conflicting interpretations
- Cardiomyopathy; Cardiovascular phenotype; Familial isolated arrhythmogenic right
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.29
- CADD 18.80
- PolyPhen-2 0.98
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 11)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)