ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.613A>G (p.Met205Val) (rs72558411)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634843 SCV000756191 likely pathogenic Ornithine carbamoyltransferase deficiency 2017-10-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 205 of the OTC protein (p.Met205Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). Family studies have indicated that this variant was not present in the parents of an individual with OTC deficiency, which suggests that it was de novo in that affected individual (Invitae). This variant has also been reported in an individual affected with OTC deficiency or with a possible diagnosis of OTC deficiency (PMID: 11117428). ClinVar contains an entry for this variant (Variation ID: 97270). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GenMed Metabolism Lab RCV000083512 SCV000115598 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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