ClinVar Miner

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

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Total submissions: 5
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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
Illumina Clinical Services Laboratory,Illumina RCV000352286 SCV000439426 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675745 SCV000801462 benign not provided 2017-04-18 no assertion criteria provided clinical testing
PreventionGenetics RCV000078941 SCV000304457 benign not specified criteria provided, single submitter clinical testing

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