ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.589G>A (p.Gly197Arg)

dbSNP: rs72556301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000083502 SCV001788194 pathogenic not provided 2019-09-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28324312, 10502831)
Invitae RCV001857404 SCV002232778 pathogenic Ornithine carbamoyltransferase deficiency 2021-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly197 amino acid residue in OTC. Other variant(s) that disrupt this residue have been observed in individuals with OTC-related conditions (PMID: 10946359, 19138872), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt OTC protein function. ClinVar contains an entry for this variant (Variation ID: 97260). This missense change has been observed in individuals with ornithine transcarbamylase deficiency (PMID: 10502831; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 197 of the OTC protein (p.Gly197Arg).
Fulgent Genetics, Fulgent Genetics RCV001857404 SCV002810548 likely pathogenic Ornithine carbamoyltransferase deficiency 2021-10-28 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083502 SCV000115588 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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