D30N (p.Asp30Asn) variant of DSC2 (Desmocollin-2)
D30N (p.Asp30Asn) 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; Cardiomyopathy; Familial isolated arrhythmogenic right. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- rs1987673824
- ClinGen CA402115152
- ClinVar RCV001189855
- ClinVar RCV004010392
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrhythmogenic right
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.23
- CADD 19.00
- PolyPhen-2 0.17
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrh)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)