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 Medical Center 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 2018-02-28 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083408 SCV000115494 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
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.

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