ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.584T>G (p.Met195Arg)

dbSNP: rs180177244
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036463 SCV001199829 pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 195 of the AGXT protein (p.Met195Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with primary hyperoxaluria, type 1 (PMID: 15961946, 24988064; Invitae). ClinVar contains an entry for this variant (Variation ID: 204113). 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: 24718375). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001036463 SCV001246474 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000186319 SCV002021325 likely pathogenic Primary hyperoxaluria, type I 2022-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186319 SCV002793094 pathogenic Primary hyperoxaluria, type I 2022-03-15 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186319 SCV000239658 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Natera, Inc. RCV000186319 SCV002076467 pathogenic Primary hyperoxaluria, type I 2021-07-15 no assertion criteria provided clinical testing

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