ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) (rs199476391)

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 RCV000058946 SCV000110797 likely pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
Counsyl RCV000150058 SCV000800617 uncertain significance Metachromatic leukodystrophy 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV000150058 SCV001205880 pathogenic Metachromatic leukodystrophy 2019-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 392 of the ARSA protein (p.Arg392Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs199476391, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another ARSA variant in several individuals affected with metachromatic leukodystrophy (PMID: 9452102, 26462614, 20339381, Invitae). This variant is also known as Arg390Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 68116). This variant has been reported to affect ARSA protein function (PMID: 9452102). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000058946 SCV000090467 not provided not provided no assertion provided not provided

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.