<i>SCN5A</i> Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in <i>SCN5A</i> Families

Abstract

Common genetic variation is associated with variable expressivity of BrS phenotype in <i>SCN5A</i> families, explaining in part incomplete penetrance and genotype-negative phenotype-positive individuals. <i>SCN5A</i> mutation genotype and a BrS-GRS associate with BrS phenotype, but the strength of association varies according to presence of a <i>SCN5A</i> mutation and severity of loss of function.