Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033701 | SCV001197008 | pathogenic | Propionic acidemia | 2021-07-02 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 of the PCCA gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). This variant has not been reported in the literature in individuals affected with PCCA-related conditions. For these reasons, this variant has been classified as Pathogenic. |