Total submissions: 3
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. |
Gene |
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 |