ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.808C>G (p.Gln270Glu)

gnomAD frequency: 0.00002  dbSNP: rs72558451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079088 SCV000110957 uncertain significance not provided 2012-08-20 criteria provided, single submitter clinical testing
Invitae RCV001854395 SCV002147941 uncertain significance Ornithine carbamoyltransferase deficiency 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 270 of the OTC protein (p.Gln270Glu). This variant is present in population databases (rs72558451, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with OTC-related conditions. ClinVar contains an entry for this variant (Variation ID: 93224). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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