ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1963G>A (p.Glu655Lys) (rs199473579)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058468 SCV000089988 not provided Atrial fibrillation no assertion provided literature only This variant has been reported as associated with Atrial fibrillation in the following publications (PMID:18378609). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
GeneDx RCV000485732 SCV000565532 likely pathogenic not provided 2014-05-27 criteria provided, single submitter clinical testing The E655K variant in the SCN5A gene has been reported in one individual with atrial fibrillation (Darbar D et al., 2008). This study identified E655K in a 37 year old Caucasian individual with atrial fibrillation without heart disease, and it was not observed in 720 alleles (Darbar D et al., 2008). The E655K variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Missense mutations in nearby residues (A647D, P648L, E654K, R661W) have been reported in the Human Gene Mutation Database in association with SCN5A-related disorders (Stenson et al., 2009), supporting the functional importance of this region of the protein. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
OMIM RCV000022951 SCV000044242 pathogenic Atrial fibrillation, familial, 10 2008-04-15 no assertion criteria provided literature only

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.