R376H (p.Arg376His) variant of SCN5A (Nav1.5)
R376H (p.Arg376His) 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 Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R376H (p.Arg376His) variant details
- p.Arg376His
- rs199473101
- ClinGen CA014389
- cosmic curated COSV61144
- ClinVar RCV000058396
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.74
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrom)
- EBI: Pathogenic (in BRGDA1 and ATFB10)
- UniProt: Pathogenic (in BRGDA1 and ATFB10)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. (PMID 18378609)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)