D356N (p.Asp356Asn) variant of SCN5A (Nav1.5)
D356N (p.Asp356Asn) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; Unexplained death in infancy and sudden unexplained death in. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D356N (p.Asp356Asn) variant details
- p.Asp356Asn
- rs199473565
- ClinGen CA014277
- cosmic curated COSV10606
- ClinVar RCV000058388
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Unexplained death in infancy and sudden unexplained death in
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.06
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Unexplained death in infancy and sudden unex)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. (PMID 16325048)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)