ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val)

gnomAD frequency: 0.00001  dbSNP: rs1425773776
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001305693 SCV001495039 likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2023-06-14 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 expected to disrupt SLC2A1 protein function. ClinVar contains an entry for this variant (Variation ID: 1008366). This missense change has been observed in individual(s) with clinical features of autosomal dominant glucose transporter type 1 deficiency syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 301 of the SLC2A1 protein (p.Ala301Val).
3billion RCV001779153 SCV002014693 uncertain significance Encephalopathy due to GLUT1 deficiency 2021-10-25 criteria provided, single submitter clinical testing This variant is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.685, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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.