ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1493G>A (p.Arg498His) (rs6151428)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078941 SCV000110802 benign not specified 2013-09-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078941 SCV000304457 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352286 SCV000439426 likely benign Metachromatic leukodystrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078941 SCV000918481 benign not specified 2017-11-15 criteria provided, single submitter clinical testing Variant summary: The c.1493G>A (p.Arg498His) in the ARSA gene is a missense change that involves the alteration of a non-conserved nucleotide and 4/5 in silico tools predict benign outcome. The variant was observed in the large and broad cohorts of gnomAD project at an allele frequency of 0.0323 (7925/ 245028 chrs tested), predominantly in individuals of African descent (0.1; 2138/ 21170 chrs, including 119 homozygotes). These frequencies exceed the maximal expected allele frequency for a pathogenic variant in this gene (0.0028). In functional studies, an enzymatic assay performed on platelet lysates from an individual homozygous for R498H showed normal values comparative with wild-type, therefore the variant is considered to be functionally neutral. In addition, several reputable databases/diagnostic centers classified the variant of interest as Benign/likely Benign. Taking together, the variant was classified as Benign.
Invitae RCV000352286 SCV001730624 benign Metachromatic leukodystrophy 2020-12-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675745 SCV000801462 benign not provided 2017-04-18 no assertion criteria provided clinical testing
Natera, Inc. RCV000352286 SCV001462376 benign Metachromatic leukodystrophy 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078941 SCV001744506 benign not specified no assertion criteria provided clinical testing

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