Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531347 | SCV000631916 | pathogenic | Propionic acidemia | 2021-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe213Serfs*5) in the PCCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 459942). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000531347 | SCV004205190 | likely pathogenic | Propionic acidemia | 2023-10-10 | criteria provided, single submitter | clinical testing |