ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro)

dbSNP: rs886041633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000329396 SCV000330334 likely pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003631101 SCV004486060 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2022-12-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 313 of the SLC2A1 protein (p.Ser313Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 280423).

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