ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.122G>T (p.Gly41Val)

gnomAD frequency: 0.00001  dbSNP: rs180177168
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169364 SCV000220736 likely pathogenic Primary hyperoxaluria, type I 2014-09-26 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001386862 SCV001587246 pathogenic not provided 2021-12-18 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with hyperoxaluria (PMID: 10453743). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly41 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8101040, 15802217, 20133649, 23229545). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects AGXT function (PMID: 15802217, 16971151, 18448374, 20133649, 21176891). 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. ClinVar contains an entry for this variant (Variation ID: 188985). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 41 of the AGXT protein (p.Gly41Val).
Baylor Genetics RCV000169364 SCV004192927 likely pathogenic Primary hyperoxaluria, type I 2024-03-24 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000169364 SCV000239607 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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