ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter)

dbSNP: rs1553607597
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
Color Diagnostics, LLC DBA Color Health RCV001843273 SCV001352351 pathogenic Cardiac arrhythmia 2020-03-20 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 2 of the SCN5A gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with Brugada syndrome (PMID: 22840528). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of SCN5A function is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic.
New York Genome Center RCV002265957 SCV002548570 pathogenic Brugada syndrome 1; Long QT syndrome 3 2021-07-02 criteria provided, single submitter clinical testing The heterozygous nonsense variant c.127C>T, p.Arg43Ter in exon 2 of the SCN5A gene, creates a premature translation stop signal at AA 43. This variant isexpected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with Brugada syndrome (PMID:22840528). The variant is absent in the gnomAD v3.1.1 database, suggesting it is not a common benign variant in the populations represented in this database. Loss of function is a known mechanism of SCN5A associated Brugada syndrome. Based on available evidence, this variant is classified as Pathogenic.

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.