Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674344 | SCV000799666 | uncertain significance | Congenital hyperammonemia, type I | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674344 | SCV002281831 | likely pathogenic | Congenital hyperammonemia, type I | 2023-04-14 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant results in retention of part of intron 16 and introduces a premature termination codon (PMID: 16737834, 32154057). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 558118). This variant has been observed in individuals with CPS1 deficiency (PMID: 16737834, 28526534, 32154057, 33309754). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 16 of the CPS1 gene. It does not directly change the encoded amino acid sequence of the CPS1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. |
Baylor Genetics | RCV003465535 | SCV004214504 | pathogenic | Pulmonary hypertension, neonatal, susceptibility to | 2023-08-28 | criteria provided, single submitter | clinical testing |