ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.33del (p.Lys12fs) (rs180177201)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169102 SCV000220294 likely pathogenic Primary hyperoxaluria, type I 2014-05-01 criteria provided, single submitter literature only
Invitae RCV000794507 SCV000933919 pathogenic not provided 2018-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys12Argfs*34) in the AGXT gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to be homozygous or in combination with another AGXT variant in individuals affected with hyperoxaluria (PMID: 15963748, 17495019, 26383609). ClinVar contains an entry for this variant (Variation ID: 188775). 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 RCV000169102 SCV000239728 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.