ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)

dbSNP: rs961015305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669529 SCV000794289 likely pathogenic Congenital hyperammonemia, type I 2017-10-05 criteria provided, single submitter clinical testing
Invitae RCV000669529 SCV003502968 pathogenic Congenital hyperammonemia, type I 2023-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser396*) in the CPS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPS1 are known to be pathogenic (PMID: 21120950). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CPS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553982). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003117474 SCV003798763 likely pathogenic not provided 2023-02-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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