Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype

Mutations in gene SCN5A, which encodes cardiac voltage-gated sodium channel Na_v1.5, are associated with multiple clinical phenotypes. Here we describe a novel A1294G genetic variant detected in a male patient with combined clinical phenotype including atrioventricular II block, Brugada-like ECG, septal fibrosis, right ventricular dilatation and decreased left ventricular contractility. Residue A1294 is located in the IIIS3-S4 extracellular …