Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054472 | SCV001218788 | pathogenic | Propionic acidemia | 2023-02-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PCCA-related conditions. This sequence change creates a premature translational stop signal (p.Glu151*) in the PCCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 850325). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001054472 | SCV004202834 | likely pathogenic | Propionic acidemia | 2023-10-26 | criteria provided, single submitter | clinical testing |