Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669578 | SCV000794345 | likely pathogenic | Congenital hyperammonemia, type I | 2017-09-24 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000669578 | SCV000930270 | pathogenic | Congenital hyperammonemia, type I | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669578 | SCV000950023 | pathogenic | Congenital hyperammonemia, type I | 2018-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg721*) in the CPS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs202107577, ExAC 0.006%). This variant has been observed in an individual with carbamylphosphate synthetase 1 deficiency (PMID: 12655559). ClinVar contains an entry for this variant (Variation ID: 554027). Loss-of-function variants in CPS1 are known to be pathogenic (PMID: 21120950). For these reasons, this variant has been classified as Pathogenic. |