ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)

dbSNP: rs180177189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352204 SCV001546741 pathogenic not provided 2022-06-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 204087). This missense change has been observed in individual(s) with AGXT-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 95 of the AGXT protein (p.Glu95Lys). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects AGXT function (PMID: 19479957, 24718375). 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.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186293 SCV000239623 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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