ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.790A>G (p.Thr264Ala)

dbSNP: rs72558444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514461 SCV003445133 pathogenic Ornithine carbamoyltransferase deficiency 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects OTC function (PMID: 8112735). 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 OTC protein function. ClinVar contains an entry for this variant (Variation ID: 97326). This missense change has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 8295401, 8365726, 10737985). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 264 of the OTC protein (p.Thr264Ala).
GenMed Metabolism Lab RCV000083573 SCV000115659 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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