ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.821G>A (p.Arg274Gln)

gnomAD frequency: 0.00005  dbSNP: rs137986136
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
Invitae RCV001058598 SCV001223182 uncertain significance Long QT syndrome 2023-02-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 180529). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 274 of the SNTA1 protein (p.Arg274Gln). This variant is present in population databases (rs137986136, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Brugada syndrome (PMID: 26220970). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SNTA1 protein function. 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.
Ambry Genetics RCV002408707 SCV002676056 benign Cardiovascular phenotype 2023-04-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Blueprint Genetics RCV000157506 SCV000207251 uncertain significance Brugada syndrome 2014-10-06 no assertion criteria provided 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.