Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667695 | SCV000792186 | likely pathogenic | Propionic acidemia | 2017-06-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667695 | SCV001214519 | pathogenic | Propionic acidemia | 2023-04-14 | 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: 552435). This premature translational stop signal has been observed in individual(s) with propionic acidemia (PMID: 24863100). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs769968548, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Leu280Profs*11) 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 | RCV000667695 | SCV004205236 | pathogenic | Propionic acidemia | 2022-12-10 | criteria provided, single submitter | clinical testing |