ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)

dbSNP: rs180177155
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000186350 SCV003829899 likely pathogenic Primary hyperoxaluria, type I 2022-12-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556225 SCV004292195 pathogenic not provided 2023-06-15 criteria provided, single submitter clinical testing 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AGXT protein function. ClinVar contains an entry for this variant (Variation ID: 204143). This missense change has been observed in individuals with primary hyperoxaluria type 1 (PMID: 25629080, 34082749). This variant is present in population databases (rs180177155, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 336 of the AGXT protein (p.Val336Asp). Experimental studies have shown that this missense change affects AGXT function (PMID: 18448374, 22529745). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000186350 SCV005058638 pathogenic Primary hyperoxaluria, type I 2024-03-02 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186350 SCV000239696 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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