ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.358+1G>T

dbSNP: rs796052067
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 RCV003688832 SCV004452890 pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 204151). Disruption of this splice site has been observed in individual(s) with primary hyperoxaluria (PMID: 15961946). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 2 of the AGXT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957).
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186358 SCV000239705 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.