ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)

gnomAD frequency: 0.00001  dbSNP: rs80359815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761655 SCV000891827 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387742 SCV001588451 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2024-11-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 93 of the SLC2A1 protein (p.Arg93Gln). This variant is present in population databases (rs80359815, gnomAD 0.003%). This missense change has been observed in individual(s) with autosomal dominant GLUT1-deficiency syndrome (PMID: 18387950). ClinVar contains an entry for this variant (Variation ID: 623684). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts the p.Arg93 amino acid residue in SLC2A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18403583, 19996082, 20129935, 23106342, 23448551). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002249465 SCV002519370 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000761655 SCV003932970 likely pathogenic not provided 2025-04-10 criteria provided, single submitter clinical testing Reported in patients with paroxysmal dyskinesia and in a patient with learning disability in published literature; however, information about parental testing was not provided (PMID: 25616474, 32753446); In silico analysis indicates that this missense variant does not alter protein structure/function; 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: 22190371, 32753446, 25616474, 18387950)

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