ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)

dbSNP: rs121909740
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147534 SCV000194979 pathogenic Encephalopathy due to GLUT1 deficiency 2013-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000189361 SCV000242999 pathogenic not provided 2024-08-13 criteria provided, single submitter clinical testing Published functional studies demonstrate decreased glucose transport (PMID: 18451999); Not observed at significant frequency in large population cohorts (gnomAD); 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: 25564316, 26193382, 26768679, 24847886, 26598494, 25758715, 29655203, 18451999, 24892788, 35388452, 37563452, 28407523)
Labcorp Genetics (formerly Invitae), Labcorp RCV001851890 SCV002236337 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SLC2A1 function (PMID: 18451999). 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: 16114). This variant is also known as c.G1002A. This missense change has been observed in individual(s) with SLC2A1-related conditions (PMID: 18451999, 24892788). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 275 of the SLC2A1 protein (p.Ala275Thr).
Genome-Nilou Lab RCV000147534 SCV004172907 pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000017494 SCV000037766 pathogenic Childhood onset GLUT1 deficiency syndrome 2 2008-06-01 no assertion criteria provided literature only

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