ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)

dbSNP: rs121909739
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153967 SCV000232239 pathogenic not provided 2014-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000153967 SCV000329809 pathogenic not provided 2022-02-28 criteria provided, single submitter clinical testing Published functional studies demonstrate reduced glucose uptake (Weber et al., 2008); Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20574033, 27781031, 26615598, 18451999, 26986070, 21791420, 20507906, 25022942, 27351150, 26536893, 27128978, 26821218, 24847886, 11076005, 30895386, 31302675, 33584489)
Labcorp Genetics (formerly Invitae), Labcorp RCV000473987 SCV000545828 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2024-03-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 314 of the SLC2A1 protein (p.Gly314Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epilepsy, mild mental retardation, and impulsivity and/or paroxysmal exertion-induced dyskinesias (PMID: 11076005, 18451999, 26615598, 27351150). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16113). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects SLC2A1 function (PMID: 18451999). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253635 SCV001429464 pathogenic Encephalopathy due to GLUT1 deficiency 2018-06-13 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000153967 SCV001446492 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000153967 SCV002496865 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing SLC2A1: PM2, PM5, PS2:Moderate, PS4:Moderate, PP2, PS3:Supporting
MGZ Medical Genetics Center RCV002288509 SCV002581027 pathogenic Dystonia 9 2022-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001253635 SCV004172865 pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000017493 SCV000037765 pathogenic Childhood onset GLUT1 deficiency syndrome 2 2008-06-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000153967 SCV001809509 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000153967 SCV001955691 pathogenic not provided no assertion criteria provided clinical testing

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