ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4243-2A>G

dbSNP: rs1575719863
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.