ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg)

gnomAD frequency: 0.00002  dbSNP: rs374246708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236071 SCV001408783 uncertain significance Arterial tortuosity syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 188 of the SLC2A10 protein (p.Gly188Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. 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. 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 RCV003234009 SCV003930787 uncertain significance not provided 2022-12-08 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

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