ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)

gnomAD frequency: 0.00002  dbSNP: rs121908522
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005997 SCV000485912 likely pathogenic Primary hyperoxaluria, type I 2016-03-07 criteria provided, single submitter clinical testing
Invitae RCV001851685 SCV002233889 pathogenic not provided 2021-10-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 82 of the AGXT protein (p.Gly82Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs121908522, ExAC 0.01%). This variant has been observed in individual(s) with primary hyperoxaluria (PMID: 1349575). This variant is also known as G367A. ClinVar contains an entry for this variant (Variation ID: 5643). 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 have shown that this variant affects AGXT protein function (PMID: 10960483, 17696873). This variant disrupts the p.Gly82 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15253729). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005997 SCV000026179 pathogenic Primary hyperoxaluria, type I 2000-11-17 no assertion criteria provided literature only
GeneReviews RCV000005997 SCV000172451 pathogenic Primary hyperoxaluria, type I 2014-07-17 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000005997 SCV000239620 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Yale Center for Mendelian Genomics,Yale University RCV000005997 SCV002106577 pathogenic Primary hyperoxaluria, type I 2019-01-17 no assertion criteria provided literature only

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