ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.272C>T (p.Thr91Ile)

gnomAD frequency: 0.00002  dbSNP: rs372906667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317982 SCV000849546 uncertain significance Inborn genetic diseases 2017-05-01 criteria provided, single submitter clinical testing The p.T91I variant (also known as c.272C>T), located in coding exon 3 of the OTC gene, results from a C to T substitution at nucleotide position 272. The threonine at codon 91 is replaced by isoleucine, an amino acid with similar properties. This variant did not co-segregate with disease in one individual tested in our laboratory. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825439 SCV002087164 uncertain significance Ornithine carbamoyltransferase deficiency 2020-12-03 no assertion criteria provided clinical testing

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