ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.928A>T (p.Met310Leu)

gnomAD frequency: 0.00004  dbSNP: rs776260027
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 RCV000810077 SCV000950264 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 310 of the SCN3A protein (p.Met310Leu). This variant is present in population databases (rs776260027, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 654174). 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 SCN3A 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.
Revvity Omics, Revvity RCV000810077 SCV003823175 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000810077 SCV004147113 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SCN3A: BP4

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.