ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1425A>C (p.Arg475Ser) (rs199473116)

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
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058422 SCV000089942 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:19841300;PMID:20129283).
Invitae RCV000638713 SCV000760255 uncertain significance Brugada syndrome 2017-10-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 475 of the SCN5A protein (p.Arg475Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs199473116, ExAC 0.03%). This variant has not been reported in the literature in individuals with SCN5A-related disease, however, it has been reported in the control/healthy subjects (PMID: 20129283, 19841300, 15851227, 25904541). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.