ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)

gnomAD frequency: 0.00002  dbSNP: rs180177157
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169332 SCV000220673 likely pathogenic Primary hyperoxaluria, type I 2014-09-05 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001054309 SCV001218618 pathogenic not provided 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 36 of the AGXT protein (p.Arg36Cys). This variant is present in population databases (rs180177157, gnomAD 0.006%). This missense change has been observed in individuals with primary hyperoxaluria (PMID: 15356974, 24988064). ClinVar contains an entry for this variant (Variation ID: 188957). 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 with a positive predictive value of 80%. Experimental studies have shown that this missense change affects AGXT function (PMID: 17495019, 22923379, 24718375). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000169332 SCV002809818 pathogenic Primary hyperoxaluria, type I 2022-02-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000169332 SCV004194872 pathogenic Primary hyperoxaluria, type I 2024-03-23 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000169332 SCV000239603 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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.