KCNQ1 and familial long QT syndrome: The most plausible cause of LQTS seems to be the rare variant in KCNQ1 [previously reported in LQTS in a P role (CM040442) and currently also classified as LP by ACMG], but we cannot discard a potential pathogenic role of the novel deletion in RyR2—it is currently classified as P by ACMG and could play a key role in this family.