ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.845A>G (p.Gln282Arg)

dbSNP: rs180177280
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 RCV002513967 SCV003524993 uncertain significance not provided 2022-03-26 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with primary hyperoxaluria type 1 (PMID: 19479957). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 282 of the AGXT protein (p.Gln282Arg). ClinVar contains an entry for this variant (Variation ID: 204053). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change does not substantially affect AGXT function (PMID: 24718375). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186259 SCV000239583 uncertain significance 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.