ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) (rs180177210)

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 RCV000818752 SCV000959382 pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg122*) in the AGXT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs180177210, ExAC 0.03%). This variant has been observed in several individuals affected with primary hyperoxaluria (PMID: 21850686, 29244539, 19479957). ClinVar contains an entry for this variant (Variation ID: 204097). Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186303 SCV000239636 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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.