ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)

gnomAD frequency: 0.00003  dbSNP: rs180177260
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
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186253 SCV000239577 likely benign Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing Enzyme has 75% normal activity in vitro (PMID:19479957). ACMG:PM2 BS3 BP4
Fulgent Genetics, Fulgent Genetics RCV000186253 SCV002790285 uncertain significance Primary hyperoxaluria, type I 2021-08-17 criteria provided, single submitter clinical testing
Invitae RCV002517831 SCV003459284 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 248 of the AGXT protein (p.Ala248Ser). This variant is present in population databases (rs180177260, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of primary hyperoxaluria type I (PMID: 19479957). ClinVar contains an entry for this variant (Variation ID: 204048). 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on AGXT function (PMID: 19479957). 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.

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.