ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)

dbSNP: rs13306758
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423069 SCV000515871 pathogenic not provided 2020-12-22 criteria provided, single submitter clinical testing Published functional studies demonstrate a marked reduction in glucose transport (Arsov et al., 2012; Zaman et al., 2018); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25564316, 29303961, 23340081, 23280796, 28717674, 30588498, 27779742, 30895386, 31710770, 30714351)
Labcorp Genetics (formerly Invitae), Labcorp RCV000701550 SCV000830354 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 458 of the SLC2A1 protein (p.Arg458Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with generalized epilepsy (PMID: 23280796, 23340081, 28116237). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 96708). 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: 23280796). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000762930 SCV000893352 likely pathogenic Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445507 SCV004172280 likely pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000082868 SCV000114919 risk factor Epilepsy, idiopathic generalized, susceptibility to, 12 2012-11-01 no assertion criteria provided literature only

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