ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.1408G>C (p.Gly470Arg) (rs572648977)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766835 SCV000243020 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing The G470R variant has been reported previously in an individual with epilepsy; however, information about parental testing was not provided and functional characterization of the variant was not performed (Schoeler et al., 2015). The G470R variant is observed in 3/10404 (0.03%) alleles from individuals of African background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G470R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000189382 SCV000615317 likely benign not specified 2017-03-20 criteria provided, single submitter clinical testing
Invitae RCV000692340 SCV000820157 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 470 of the SLC2A1 protein (p.Gly470Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs572648977, ExAC 0.03%). This variant has been reported in an individual affected with epilepsy (PMID: 25914049) and an individual affected with a suspected mitochondrial disorder (PMID: 24215330). ClinVar contains an entry for this variant (Variation ID: 207216). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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