ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.725dup (p.Asp243fs)

dbSNP: rs180177257
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 RCV001857595 SCV002246991 pathogenic not provided 2021-02-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with hyperoxaluria (PMID: 17495019). ClinVar contains an entry for this variant (Variation ID: 204197). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp243Glyfs*12) in the AGXT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957).
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186404 SCV000239754 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.