Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534995 | SCV000631905 | pathogenic | Propionic acidemia | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 23 of the PCCA gene. It does not directly change the encoded amino acid sequence of the PCCA protein. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with propionic acidemia (PMID: 22033733; Invitae). ClinVar contains an entry for this variant (Variation ID: 459938). Studies have shown that this variant results in activation of a cryptic splice site and introduces a new termination codon (PMID: 33923806). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Inherited Metabolic Diseases, |
RCV000534995 | SCV001482009 | pathogenic | Propionic acidemia | 2021-02-17 | criteria provided, single submitter | research | PS3, PM2, PM3, PP3, PP4 |
Baylor Genetics | RCV000534995 | SCV004202854 | likely pathogenic | Propionic acidemia | 2023-08-31 | criteria provided, single submitter | clinical testing |