ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) (rs199476356)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695949 SCV000824490 uncertain significance Metachromatic leukodystrophy 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 310 of the ARSA protein (p.Gly310Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported with another variant in ARSA in an individual affected with metachromatic leukodystrophy (PMID: 10477432). This variant is also known as p.Gly308Asp in the literature. ClinVar contains an entry for this variant (Variation ID: 68163). 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"). A different missense substitution at this codon (p.Gly308Val) has been reported in an individual affected with metachromatic leukodystrophy and functional experiments showed that the protein was catalytically inactive (PMID: 8891236). 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.
UniProtKB/Swiss-Prot RCV000058995 SCV000090516 not provided not provided no assertion provided not provided

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