ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) (rs199476373)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242589 SCV001415686 likely pathogenic Metachromatic leukodystrophy 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 145 of the ARSA protein (p.Arg145Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with metachromatic leukodystrophy in a family (PMID: 11020646). This variant is also known as Arg143Gly. ClinVar contains an entry for this variant (Variation ID: 68133). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
UniProtKB/Swiss-Prot RCV000058964 SCV000090485 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.