Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV001293409 | SCV001482012 | pathogenic | Propionic acidemia | 2021-02-17 | criteria provided, single submitter | research | PVS1, PM2, PM3_supportive, PP4 |
Invitae | RCV001293409 | SCV001577494 | pathogenic | Propionic acidemia | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 6 of the PCCB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with propionic acidemia (Yunin et al. 2020. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Poster presentation). ClinVar contains an entry for this variant (Variation ID: 203881). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 33923806). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001293409 | SCV002021618 | likely pathogenic | Propionic acidemia | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001293409 | SCV004205235 | likely pathogenic | Propionic acidemia | 2022-12-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001293409 | SCV002081482 | likely pathogenic | Propionic acidemia | 2020-10-16 | no assertion criteria provided | clinical testing |