ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) (rs74315461)

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 RCV000078945 SCV000110806 uncertain significance not provided 2016-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623394 SCV000742234 pathogenic Inborn genetic diseases 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000003209 SCV001559456 uncertain significance Metachromatic leukodystrophy 2020-07-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 124 of the ARSA protein (p.Gly124Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs74315461, ExAC 0.02%). This variant has been observed in individual(s) with Metachromatic leukodystrophy (PMID: 7902317, 7981715). ClinVar contains an entry for this variant (Variation ID: 3063). This variant has been reported to affect ARSA protein function (PMID: 7902317). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000003209 SCV000023367 pathogenic Metachromatic leukodystrophy 1994-01-01 no assertion criteria provided literature only

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.