I75T (p.Ile75Thr) variant of SCN10A (Q9Y5Y9)

Name: SCN10A I75T (p.Ile75Thr) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-07-23
License: https://catvariant.com/terms-of-use

I75T (p.Ile75Thr) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome. The record also includes published literature and structural context.

I75T (p.Ile75Thr) variant details

p.Ile75Thr
rs1200209497
ClinGen CA352162629
ClinVar RCV001231565
ClinVar RCV002429987
Uncertain significance
Cardiovascular phenotype; Brugada syndrome
Missense
ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome)
EBI: Variant of uncertain significance
UniProt: Uncertain significance
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)