ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.944T>A (p.Val315Asp) (rs67414444)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenMed Metabolism Lab RCV000083615 SCV000115701 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Invitae RCV000690668 SCV000818367 pathogenic Ornithine carbamoyltransferase deficiency 2018-06-18 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 315 of the OTC protein (p.Val315Asp). The valine residue is highly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with OTC deficiency (PMID: 10946359). Additionally, this variant has been observed to be de novo in an individual affected with OTC deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 97366). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Other different missense substitutions at this codon (p.Val315Gly, p.Val315Phe) have been reported in the literature in individuals affected with OTC deficieny (PMID: 10946359, 16786505). For these reasons, this variant has been classified as Pathogenic.

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