ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.77G>A (p.Arg26Gln) (rs68031618)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenMed Metabolism Lab RCV000083565 SCV000115651 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000011740 SCV000917917 pathogenic Ornithine carbamoyltransferase deficiency 2018-02-08 criteria provided, single submitter clinical testing Variant summary: OTC c.77G>A (p.Arg26Gln) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 86719 control chromosomes in ExAC and the literature. The c.77G>A variant has been reported in the literature in multiple individuals affected with Ornithine Transcarbamylase Deficiency (Grompe_1989, Kim_2006, Kim_2015, Arranz_2007, Shao_2017). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000011740 SCV000031972 pathogenic Ornithine carbamoyltransferase deficiency 2017-01-26 no assertion criteria provided literature only

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