ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) (rs1057518953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415325 SCV000493009 likely pathogenic Paroxysmal dystonia 2014-01-07 criteria provided, single submitter clinical testing
Invitae RCV000458446 SCV000545837 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2018-01-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 134 of the SLC2A1 protein (p.Gly134Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SLC2A1-related disease. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on mRNA splicing and protein function. It has been classified as a Variant of Uncertain Significance.

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