ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)

dbSNP: rs1057520545
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429855 SCV000515966 pathogenic not provided 2022-10-24 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect, as V165I impairs glucose transport activity compared to wildtype (Mueckler et al., 1994); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 9374494, 24847886, 25022942, 25564316, 25099510, 28717674, 8027028, 21530357, 20621801, 28459125)
Labcorp Genetics (formerly Invitae), Labcorp RCV001865327 SCV002247281 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 165 of the SLC2A1 protein (p.Val165Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SLC2A1-related conditions (PMID: 20621801, 21530357, 25564316). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 379258). 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. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468576 SCV002764889 pathogenic Childhood onset GLUT1 deficiency syndrome 2 2022-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445980 SCV004173446 pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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