ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.40G>A (p.Ala14Thr)

gnomAD frequency: 0.00040  dbSNP: rs145157196
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001441692 SCV001644625 likely benign Metachromatic leukodystrophy 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001441692 SCV002083909 likely benign Metachromatic leukodystrophy 2019-11-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928802 SCV004738541 likely benign ARSA-related disorder 2021-12-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Gelb Laboratory, University of Washington RCV001441692 SCV005046687 not provided Metachromatic leukodystrophy no assertion provided in vitro

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.