ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) (rs1318756445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673303 SCV000798487 likely pathogenic Congenital hyperammonemia, type I 2018-03-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000673303 SCV000914890 uncertain significance Congenital hyperammonemia, type I 2018-11-01 criteria provided, single submitter clinical testing The CPS1 c.2809_2810delAT (p.Ile937ProfsTer5) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. The p.Ile937ProfsTer5 variant is listed in a supplementary table in Haberle et al. (2011) as a novel variant, with no further details given. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database in a region of good coverage, so the variant is presumed to be rare. Based on the predicted truncating nature of the variant and limited evidence, the p.Ile937ProfsTer5 variant is classified as a variant of unknown significance but suspicious for pathogenicity for carbamoylphosphate synthetase I deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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