ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) (rs199476360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039188 SCV001202704 pathogenic Metachromatic leukodystrophy 2019-12-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 309 of the ARSA protein (p.Glu309Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with metachromatic leukodystrophy (PMID: 18768108, 19606494, 26462614, 30057904). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.Glu307Lys in the literature. ClinVar contains an entry for this variant (Variation ID: 68162). This variant has been reported to affect ARSA protein function (PMID: 19606494, 27904824, 28762252). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000058994 SCV000090515 not provided not provided no assertion provided not provided

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