ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.970A>G (p.Ile324Val)

gnomAD frequency: 0.00001  dbSNP: rs557527090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943816 SCV002194778 uncertain significance Metachromatic leukodystrophy 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 324 of the ARSA protein (p.Ile324Val). This variant is present in population databases (rs557527090, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ARSA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1421509). 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 RCV001943816 SCV005046807 not provided Metachromatic leukodystrophy no assertion provided in vitro

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