ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.302G>T (p.Gly101Val) (rs74315455)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803574 SCV000943452 pathogenic Metachromatic leukodystrophy 2019-04-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 101 of the ARSA protein (p.Gly101Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs74315455, ExAC 0.03%). This variant has been observed in combination with another ARSA variant in individual(s) with metachromatic leukodystrophy (PMID: 30057904, 26553228, 27779215, 27374302, 10477432). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Gly99Val (445G>T) an Gly15Val in the literature. ClinVar contains an entry for this variant (Variation ID: 68129). 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"). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000058960 SCV000090481 not provided not provided no assertion provided not provided

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