I75T (p.Ile75Thr) variant of SCN10A (Nav1.8)
I75T (p.Ile75Thr) in SCN10A (Nav1.8) 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)