ClinVar Miner

Submissions for variant NM_000049.3(ASPA):c.503G>A (p.Arg168His) (rs770706390)

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
Counsyl RCV000665512 SCV000789650 likely pathogenic Spongy degeneration of central nervous system 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV000665512 SCV001214233 pathogenic Spongy degeneration of central nervous system 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 168 of the ASPA protein (p.Arg168His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs770706390, ExAC 0.02%). This variant has been observed in several individuals affected with Canavan disease (PMID: 10909858, 28101991, Leiden Open-source Variation Database (PMID: 21520333)). ClinVar contains an entry for this variant (Variation ID: 550697). This variant has been reported to affect ASPA protein function (PMID: 22750302). This variant disrupts the p.Arg168 amino acid residue in ASPA. Other variant(s) that disrupt this residue have been observed in individuals with ASPA-related conditions (PMID: 8659549, 16854607), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as 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.