ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.275G>A (p.Arg92Gln) (rs66550389)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990783 SCV001141819 pathogenic Ornithine carbamoyltransferase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990783 SCV001214613 pathogenic Ornithine carbamoyltransferase deficiency 2019-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 92 of the OTC protein (p.Arg92Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with ornithine transcarbamylase deficiency (PMID: 1671317, 26753873, 19138872, 30285816). ClinVar contains an entry for this variant (Variation ID: 97152). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
GenMed Metabolism Lab RCV000083384 SCV000115470 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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