ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.1402C>T (p.Arg468Trp) (rs267607059)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000017500 SCV000831425 likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2018-03-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 468 of the SLC2A1 protein (p.Arg468Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with GLUT1-deficiency syndrome in two families in which affected individuals were proven to be homozygous (PMID: 20221955, 20687207). However, it is unclear if these families are different families or multiple studies from the same family. ClinVar contains an entry for this variant (Variation ID: 16120). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000017500 SCV000037772 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2009-10-01 no assertion criteria provided literature only

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