ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.919A>G (p.Lys307Glu) (rs796052013)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186068 SCV000239037 pathogenic not provided 2015-07-06 criteria provided, single submitter clinical testing It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a positively charged Lysine residue is replaced by a negatively charged Glutamic Acid residue at a position that is near the ornithine binding site in a region of the ornithine transcarbamylase protein that is well conserved in vertebrates (Sakurai et al., 2007; Yamaguchi et al., 2006). Therefore, we interpret K307E to be a disease-associated mutation. The variant is found in OTC panel(s).

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