ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1819G>T (p.Ala607Ser)

dbSNP: rs139355449
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002015177 SCV002286503 uncertain significance Brugada syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 607 of the SCN10A protein (p.Ala607Ser). This variant is present in population databases (rs139355449, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1495080). 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 SCN10A 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 RCV002407259 SCV002711066 uncertain significance Cardiovascular phenotype 2023-09-15 criteria provided, single submitter clinical testing The p.A607S variant (also known as c.1819G>T), located in coding exon 12 of the SCN10A gene, results from a G to T substitution at nucleotide position 1819. The alanine at codon 607 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994376 SCV004812976 uncertain significance not specified 2024-02-26 criteria provided, single submitter 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.