ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.583del (p.Trp195fs) (rs398123416)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078948 SCV000110809 pathogenic not provided 2013-03-27 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001251199 SCV001426592 pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing
Invitae RCV001251199 SCV001592676 pathogenic Metachromatic leukodystrophy 2020-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp195Glyfs*5) in the ARSA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with metachromatic leukodystrophy (PMID: 26462614). ClinVar contains an entry for this variant (Variation ID: 93124). Loss-of-function variants in ARSA are known to be pathogenic (PMID: 8962139, 10477432). For these reasons, this variant has been classified as Pathogenic.
Gene Mapping Laboratory,Hacettepe University RCV001251199 SCV001441275 pathogenic Metachromatic leukodystrophy no assertion criteria provided research Clinical features, enzyme activities and urinary sulfatide levels are compatible with metachromatic leukodystrophy

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.