Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825606 | SCV000966951 | likely pathogenic | Brugada syndrome | 2018-04-17 | criteria provided, single submitter | clinical testing | The c.4246-2A>G variant in SCN5A has not been previously reported in individuals with Brugada syndrome or in large population studies. This variant occurs in th e invariant region (+/- 1,2) of the splice consensus sequence and is predicted t o cause altered splicing leading to an abnormal or absent protein. Heterozygous loss of function variants in the SCN5A gene have been reported in individuals wi th Brugada syndrome (Kapplinger 2010), DCM (Olson 2005), ventricular fibrillatio n (Chen 1998), as well as AV block and cardiac conduction defects (Baruteau 2012 ). In summary, although additional studies are required to fully establish its c linical significance, the c.4246-2A>G variant is likely pathogenic. ACMG/AMP Cri teria applied: PVS1; PM2. |