ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)

gnomAD frequency: 0.00001  dbSNP: rs753161833
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648089 SCV000769899 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 96 of the SLC2A1 protein (p.Met96Val). This variant is present in population databases (rs753161833, gnomAD 0.02%). This missense change has been observed in individual(s) with GLUT1-deficiency syndrome (PMID: 20129935, 26598494, 30588498). ClinVar contains an entry for this variant (Variation ID: 538680). 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. Experimental studies have shown that this missense change affects SLC2A1 function (PMID: 30588498). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001532534 SCV001748139 likely pathogenic not provided 2021-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446275 SCV004173540 likely pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV001532534 SCV005332584 likely pathogenic not provided 2024-03-26 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect as M96V impairs glucose transport in vitro (PMID: 30588498); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24847886, 34305802, 20129935, 26598494, 26986070, 30588498)

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.