G35S (p.Gly35Ser) variant of SCN5A (Nav1.5)
G35S (p.Gly35Ser) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; SCN5A-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- rs199473552
- ClinGen CA014210
- cosmic curated COSV60067
- ClinVar RCV000058384
- Conflicting interpretations
- not provided; SCN5A-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.88
- CADD 6.48
- ClinVar: Conflicting classifications of pathogenicity (not provided; SCN5A-related disorder; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)