ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002283302 SCV002571639 uncertain significance not provided 2022-03-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003096357 SCV003289130 likely benign Congenital hyperammonemia, type I 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003096356 SCV003676701 likely benign Inborn genetic diseases 2021-06-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV003096357 SCV004041105 uncertain significance Congenital hyperammonemia, type I 2023-06-06 criteria provided, single submitter clinical testing

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