Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668811 | SCV000793475 | likely pathogenic | Propionic acidemia | 2017-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668811 | SCV001221549 | pathogenic | Propionic acidemia | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg111*) 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 present in population databases (rs753981900, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with propionic acidemia (PMID: 22334403, 23430860). ClinVar contains an entry for this variant (Variation ID: 553380). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000668811 | SCV004205193 | pathogenic | Propionic acidemia | 2023-09-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000668811 | SCV001454516 | pathogenic | Propionic acidemia | 2020-09-16 | no assertion criteria provided | clinical testing |