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	2019-10-31	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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