ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe)

dbSNP: rs1570592813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821549 SCV000962308 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 215 of the SLC2A1 protein (p.Leu215Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with early onset absence epilepsy and paroxysmal exertional dyskinesia (PMID: 23106342). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001664443 SCV001875333 likely pathogenic not provided 2022-05-17 criteria provided, single submitter clinical testing Observed in multiple patients with epilepsy or dystonia without intellectual disability (Arsov et al., 2012; Zaman et al., 2018); Published functional studies demonstrate a damaging effect (functionally abnormal glucose uptake in Xenopus oocytes compared to wildtype) (Zaman et al., 2018); 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: 30588498, 23106342)

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