ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)

gnomAD frequency: 0.00096  dbSNP: rs6151427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901101 SCV001045454 likely benign Metachromatic leukodystrophy 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV002051904 SCV002319131 uncertain significance not provided 2021-09-27 criteria provided, single submitter clinical testing Reported previously, as a variant that was predicted to be deleterious, in the heterozygous state in an individual with Parkinson disease; who also was heterozygous for variants in the PC and PRICKLE2 genes (Oluwole OG et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.(N440S); This variant is associated with the following publications: (PMID: 32019516)
Natera, Inc. RCV000901101 SCV001456230 likely benign Metachromatic leukodystrophy 2020-04-30 no assertion criteria provided clinical testing
Gelb Laboratory, University of Washington RCV000901101 SCV005046705 not provided Metachromatic leukodystrophy no assertion provided in vitro

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