ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.350G>A (p.Gly117Asp)

gnomAD frequency: 0.00001  dbSNP: rs1433109241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261650 SCV002541740 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095885 SCV002932816 uncertain significance Metachromatic leukodystrophy 2022-04-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 117 of the ARSA protein (p.Gly117Asp). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ARSA-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARSA protein function. 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.
Gelb Laboratory, University of Washington RCV003095885 SCV005046652 not provided Metachromatic leukodystrophy no assertion provided in vitro

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