G1740R (p.Gly1740Arg) variant of SCN5A (Nav1.5)
G1740R (p.Gly1740Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiac arrhythmia; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
G1740R (p.Gly1740Arg) variant details
- p.Gly1740Arg
- rs199473304
- ClinGen CA019005
- ClinVar RCV000058752
- ClinVar RCV005402848
- Likely pathogenic
- Cardiac arrhythmia; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Cardiac arrhythmia; Brugada syndrome)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Structural context available
- Cited in: Natural history of Brugada syndrome: insights for risk stratification and management. (PMID 11901046)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)