Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057661 | SCV001222165 | pathogenic | Congenital hyperammonemia, type I | 2023-09-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro1302Leufs*17) 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 present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 852940). This variant has not been reported in the literature in individuals affected with CPS1-related conditions. |
Baylor Genetics | RCV003467787 | SCV004216209 | likely pathogenic | Pulmonary hypertension, neonatal, susceptibility to | 2021-11-18 | criteria provided, single submitter | clinical testing |