M1T (p.Met1Thr) variant of SCN10A (Q9Y5Y9)
M1T (p.Met1Thr) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs749292402
- ClinGen CA2321323
- ClinVar RCV001981360
- Uncertain significance
- Brugada syndrome
- Missense
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)