ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)

gnomAD frequency: 0.48362  dbSNP: rs743616
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000078937 SCV000110798 benign not specified 2015-03-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078937 SCV000304455 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000020311 SCV000439431 benign Metachromatic leukodystrophy 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000020311 SCV001141460 benign Metachromatic leukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000020311 SCV001728099 benign Metachromatic leukodystrophy 2021-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020311 SCV001775284 benign Metachromatic leukodystrophy 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000675747 SCV001888198 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31694723, 29961769, 11941485, 1670590, 20220177)
GeneReviews RCV000020311 SCV000040686 not provided Metachromatic leukodystrophy no assertion provided literature only
Mayo Clinic Laboratories,Mayo Clinic RCV000675747 SCV000801465 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000020311 SCV000853181 benign Metachromatic leukodystrophy 2017-06-07 no assertion criteria provided curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078937 SCV001742599 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078937 SCV001923929 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000078937 SCV001932021 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000078937 SCV001951974 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000020311 SCV002081640 benign Metachromatic leukodystrophy 2019-11-18 no assertion criteria provided clinical testing

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