Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672023 | SCV000797078 | likely pathogenic | Propionic acidemia | 2018-01-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672023 | SCV002234686 | pathogenic | Propionic acidemia | 2023-04-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556077). This variant has not been reported in the literature in individuals affected with PCCB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu5*) 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). |
Baylor Genetics | RCV000672023 | SCV004205225 | likely pathogenic | Propionic acidemia | 2023-04-14 | criteria provided, single submitter | clinical testing |