ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.422G>A (p.Arg141Gln) (rs68026851)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000083434 SCV000230943 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000011734 SCV000894489 pathogenic Ornithine carbamoyltransferase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000011734 SCV001212429 pathogenic Ornithine carbamoyltransferase deficiency 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 141 of the OTC protein (p.Arg141Gln). 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 to segregate with ornithine transcarbamylase deficiency in several individuals and families (PMID: 3170748, 8830175, 8985493, 30175132). This variant is also known as Arg109Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 10987). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011734 SCV000031966 pathogenic Ornithine carbamoyltransferase deficiency 1992-06-01 no assertion criteria provided literature only
GenMed Metabolism Lab RCV000083434 SCV000115520 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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