ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) (rs778346264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781315 SCV000919246 likely pathogenic Congenital hyperammonemia, type I 2018-03-05 criteria provided, single submitter clinical testing Variant summary: CPS1 c.731delT (p.Leu244X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant, c.731delT, (referred to in the publication as c.854delT) has been reported in the literature in individuals affected with Carbamoylphosphate Synthetase I Deficiency (Eeds_2006). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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