ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.122G>A (p.Gly41Glu)

dbSNP: rs180177168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005089932 SCV005834370 uncertain significance not provided 2024-07-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 41 of the AGXT protein (p.Gly41Glu). This variant is present in population databases (rs180177168, gnomAD 0.003%). This missense change has been observed in individual(s) with primary hyperoxaluria (PMID: 17495019). ClinVar contains an entry for this variant (Variation ID: 204073). 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). 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, 10541294, 15802217, 16971151, 18448374, 20133649, 21176891). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186279 SCV000239606 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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