ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.374C>T (p.Thr125Met) (rs72554356)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148721 SCV000190453 uncertain significance Hyperammonemia 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
CeGaT Praxis fuer Humangenetik Tuebingen RCV000083408 SCV000780968 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV000702655 SCV000831517 uncertain significance Ornithine carbamoyltransferase deficiency 2018-07-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 125 of the OTC protein (p.Thr125Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs72554356, ExAC 0.01%). This variant has been observed in an individual affected with OTC deficiency (PMID: 8807340). ClinVar contains an entry for this variant (Variation ID: 97175). Experimental studies have shown that this missense change causes lack of OTC enzymatic activity in vitro (PMID: 17613537). 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.
GenMed Metabolism Lab RCV000083408 SCV000115494 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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