ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr)

gnomAD frequency: 0.00001  dbSNP: rs1022532582
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 RCV001922244 SCV002156841 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing 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. 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 SLC1A2 protein function. ClinVar contains an entry for this variant (Variation ID: 1382592). This variant has not been reported in the literature in individuals affected with SLC1A2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 409 of the SLC1A2 protein (p.Ala409Thr).
Revvity Omics, Revvity RCV003492691 SCV004237308 uncertain significance Developmental and epileptic encephalopathy, 41 2023-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968612 SCV004778470 uncertain significance SLC1A2-related disorder 2024-02-21 no assertion criteria provided clinical testing The SLC1A2 c.1225G>A variant is predicted to result in the amino acid substitution p.Ala409Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.