ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.454T>A (p.Ser152Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003117149 SCV003796158 uncertain significance Metachromatic leukodystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 152 of the ARSA protein (p.Ser152Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs754595975, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with ARSA-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004765751 SCV005380582 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing
Gelb Laboratory, University of Washington RCV003117149 SCV005046630 not provided Metachromatic leukodystrophy no assertion provided in vitro

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