ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237276 SCV001410030 uncertain significance Metachromatic leukodystrophy 2019-10-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 302 of the ARSA protein (p.Cys302Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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: Deleterious; PolyPhen-2: Probably 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.
Amsterdam Leukodystrophy Center,Amsterdam UMC RCV001237276 SCV001424852 pathogenic Metachromatic leukodystrophy 2020-06-24 criteria provided, single submitter clinical testing Homozygous - novel (late-infantile MLD)

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