ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5212C>T (p.Arg1738Trp) (rs199473303)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545771 SCV000637173 uncertain significance Brugada syndrome 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1739 of the SCN5A protein (p.Arg1739Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs199473303, ExAC 0.02%). This variant has been observed in individuals with clinical features of long QT syndrome (PMID: 22360817, 19716085). ClinVar contains an entry for this variant (Variation ID: 67965). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762372 SCV000892684 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824908 SCV000965836 pathogenic Sick sinus syndrome 1, autosomal recessive 2016-01-01 criteria provided, single submitter clinical testing
Color RCV001190409 SCV001357889 uncertain significance Arrhythmia 2019-10-23 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058751 SCV000090271 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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.