ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1416T>C (p.Asn472=)

gnomAD frequency: 0.00071  dbSNP: rs148204462
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842459 SCV000984481 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086539 SCV001015125 benign Congenital hyperammonemia, type I 2024-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001086539 SCV002076224 likely benign Congenital hyperammonemia, type I 2019-10-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948038 SCV004766346 likely benign CPS1-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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