ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2421G>A (p.Glu807=)

gnomAD frequency: 0.00025  dbSNP: rs140726293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605152 SCV000722229 likely benign not specified 2017-09-01 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 RCV000655216 SCV000777142 benign Congenital hyperammonemia, type I 2024-11-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711218 SCV005258277 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000655216 SCV002076243 likely benign Congenital hyperammonemia, type I 2019-12-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003962777 SCV004779901 likely benign CPS1-related disorder 2019-08-15 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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