ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)

dbSNP: rs180177235
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186316 SCV000239653 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing Liver AGT activity<10%. ACMG:PS3 PM2 PM3 PP3 PP5
Counsyl RCV000186316 SCV000794367 likely pathogenic Primary hyperoxaluria, type I 2017-10-06 criteria provided, single submitter clinical testing
Invitae RCV002513968 SCV003525031 likely pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 178 of the AGXT protein (p.Cys178Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with primary hyperoxaluria, type 1 (PMID: 24988064, 25629080). ClinVar contains an entry for this variant (Variation ID: 204110). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AGXT protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000186316 SCV004196536 likely pathogenic Primary hyperoxaluria, type I 2023-10-16 criteria provided, single submitter clinical testing

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.