R367C (p.Arg367Cys) variant of SCN5A (Nav1.5)
R367C (p.Arg367Cys) 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; SCN5A-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R367C (p.Arg367Cys) variant details
- p.Arg367Cys
- rs199473097
- ClinGen CA014305
- NCI-TCGA Cosmic COSV6112
- cosmic curated COSV61126
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular pheno)
- EBI: Pathogenic (in BRGDA1 and LQT3)
- UniProt: Pathogenic (in BRGDA1 and LQT3)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients… (PMID 12106943)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)