ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) (rs727504801)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156127 SCV000205841 pathogenic Primary dilated cardiomyopathy; Brugada syndrome 2013-10-21 criteria provided, single submitter clinical testing The Pro1332fs variant in SCN5A has not been previously reported in individuals w ith cardiomyopathy. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 1332 and lead to a premature terminati on codon 4 amino acids downstream. Heterozygous loss of function variants of the SCN5A gene have been previously reported for DCM (Olson 2005), Brugada syndrome (Kapplinger 2010), ventricular fibrillation (Chen 1998), and atrioventricular b lock and cardiac conduction defects (Baruteau 2012). Individuals with a frameshi ft or missense SCN5A variant and a diagnosis of DCM have been reported to presen t overlapping features with conduction defects, including atrial fibrillation an d arrhythmia (Olson 2005, McNair 2011). In summary, this variant meets our crite ria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845525 SCV000987634 pathogenic Familial dilated cardiomyopathy criteria provided, single submitter clinical testing

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.