ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.418G>C (p.Ala140Pro) (rs72556260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587672 SCV000697261 likely pathogenic Ornithine carbamoyltransferase deficiency 2016-12-15 criteria provided, single submitter clinical testing Variant summary: The OTC c.418G>C (p.Ala140Pro) variant involves the alteration of a conserved nucleotide and results in a replacement of a small size and hydrophobic Alanine (A) with a medium size and hydrophobic Proline (P) in the Carbamoyl phosphate binding domain of the OTC enzyme (ACMG-PM1). 5/5 in silico tools predict a damaging outcome for this substitution (ACMG-PP3). This variant is absent form the general population (ExAC) (ACMG-PM2) while it was reported in at-least 3 biochemically and clinically well characterized neonatal onset OTC deficiency patients indicating causality. In addition, at-least one clinical diagnostic laboratory has classified this variant as pathogenic (ACMG-PP5). However, the effect of this variant on functional OTC enzyme deficiency has not been reported. Taken together, this variant is classified as Likely Pathogenic.
GenMed Metabolism Lab RCV000083431 SCV000115517 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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