ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.829C>T (p.Arg277Trp) (rs72558454)

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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 RCV000083586 SCV000115672 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneDx RCV000083586 SCV000239036 pathogenic not provided 2016-07-28 criteria provided, single submitter clinical testing The R277W missense variants in the OTC gene has been reported previously in several unrelated individuals in association with late-onset OTC deficiency (Finkelstein et al., 1990; Storkanova et al. 2013).
OMIM RCV000011746 SCV000031974 pathogenic Ornithine carbamoyltransferase deficiency 1990-06-01 no assertion criteria provided literature only

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