ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.806G>A (p.Gly269Glu)

dbSNP: rs72558450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378078 SCV001575565 pathogenic Ornithine carbamoyltransferase deficiency 2023-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 269 of the OTC protein (p.Gly269Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 7474905, 24449986; Invitae). ClinVar contains an entry for this variant (Variation ID: 97334). 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. This variant disrupts the p.Gly269 amino acid residue in OTC. Other variant(s) that disrupt this residue have been observed in individuals with OTC-related conditions (PMID: 28266016, 30285816), which suggests that this may be a clinically significant amino acid residue.
GenMed Metabolism Lab RCV000083581 SCV000115667 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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