ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) (rs74315459)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666302 SCV000790571 likely pathogenic Metachromatic leukodystrophy 2017-04-04 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714802 SCV000845536 uncertain significance Pseudoarylsulfatase A deficiency 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000666302 SCV000923448 uncertain significance Metachromatic leukodystrophy 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000666302 SCV001198547 pathogenic Metachromatic leukodystrophy 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 311 of the ARSA protein (p.Gly311Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs74315459, ExAC 0.008%). This variant has been observed in individual(s) with metachromatic leukodystrophy (PMID: 8101038, 28670130, 26462614). 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.Gly309Ser in the literature. ClinVar contains an entry for this variant (Variation ID: 3060). This variant has been reported to affect ARSA protein function (PMID: 8101038, 28762252). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000666302 SCV001429286 pathogenic Metachromatic leukodystrophy 2019-05-13 criteria provided, single submitter clinical testing This variant was identified as homozygous
OMIM RCV000003206 SCV000023364 pathogenic Metachromatic leukodystrophy, late infantile 1993-08-01 no assertion criteria provided literature only
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV000666302 SCV001426665 uncertain significance Metachromatic leukodystrophy no assertion criteria provided clinical testing

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