G35A (p.Gly35Ala) variant of DSP (Desmoplakin)
G35A (p.Gly35Ala) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiomyopathy, d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- rs202194206
- ClinGen CA026887
- ClinVar RCV001183279
- ClinVar RCV002483998
- Conflicting interpretations
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiomyopathy, d
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.29
- MetaLR 0.30
- MetaSVM -0.50
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; C)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-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)