ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) (rs74315481)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Women's Health, Inc. RCV000020313 SCV001193858 likely pathogenic Metachromatic leukodystrophy 2019-11-12 criteria provided, single submitter clinical testing NM_000487.5(ARSA):c.1232C>T(T411I) is classified as likely pathogenic in the context of metachromatic leukodystrophy. Sources cited for classification include the following: PMID 18832844, 22798296, 21265945, 19154224, 10459747 and 7909527. Classification of NM_000487.5(ARSA):c.1232C>T(T411I) is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
OMIM RCV000003233 SCV000023391 pathogenic Metachromatic leukodystrophy, mild 1994-04-01 no assertion criteria provided literature only
GeneReviews RCV000020313 SCV000040688 pathologic Metachromatic leukodystrophy 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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.