ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.499G>T (p.Ala167Ser)

gnomAD frequency: 0.00001  dbSNP: rs578188411
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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 RCV000807563 SCV000947624 uncertain significance Metachromatic leukodystrophy 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 167 of the ARSA protein (p.Ala167Ser). This variant is present in population databases (rs578188411, gnomAD 0.01%). 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: 652076). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Natera, Inc. RCV000807563 SCV002081675 uncertain significance Metachromatic leukodystrophy 2020-08-12 no assertion criteria provided clinical testing
Gelb Laboratory, University of Washington RCV000807563 SCV005046619 not provided Metachromatic leukodystrophy no assertion provided in vitro

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