ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2476G>T (p.Asp826Tyr)

dbSNP: rs199535863
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 RCV000638743 SCV000760289 uncertain significance Brugada syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 826 of the SCN10A protein (p.Asp826Tyr). This variant is present in population databases (rs199535863, gnomAD 0.02%). 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: 532126). 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.
CeGaT Center for Human Genetics Tuebingen RCV000998046 SCV001153910 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448983 SCV002734620 uncertain significance Cardiovascular phenotype 2024-01-13 criteria provided, single submitter clinical testing The p.D826Y variant (also known as c.2476G>T), located in coding exon 15 of the SCN10A gene, results from a G to T substitution at nucleotide position 2476. The aspartic acid at codon 826 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.