ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.292G>A (p.Glu98Lys)

dbSNP: rs72554347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634846 SCV000756195 uncertain significance Ornithine carbamoyltransferase deficiency 2017-08-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported in an individual affected with OTC  (PMID: 12083811). ClinVar contains an entry for this variant (Variation ID: 97158). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 98 of the OTC protein (p.Glu98Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
GenMed Metabolism Lab RCV000083391 SCV000115477 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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