Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000317058 | SCV000336032 | pathogenic | not provided | 2015-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519139 | SCV003255468 | pathogenic | Congenital hyperammonemia, type I | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly163*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 283734). This variant has not been reported in the literature in individuals affected with CPS1-related conditions. |
Baylor Genetics | RCV003469230 | SCV004214482 | likely pathogenic | Pulmonary hypertension, neonatal, susceptibility to | 2023-10-23 | criteria provided, single submitter | clinical testing |