Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387357 | SCV001587970 | pathogenic | Propionic acidemia | 2020-03-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). This variant has not been reported in the literature in individuals with PCCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu521*) in the PCCA gene. It is expected to result in an absent or disrupted protein product. |