Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000012799 | SCV001591311 | pathogenic | Propionic acidemia | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the PCCB gene. It does not directly change the encoded amino acid sequence of the PCCB protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. Studies have shown that this variant results in insertion of 72 nucleotides and introduces a premature termination codon (PMID: 17966092). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 12019). This variant has been observed in individual(s) with propionic acidemia (PMID: 17966092, 20549364; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. |
| Greenwood Genetic Center Diagnostic Laboratories, |
RCV000012799 | SCV003932152 | pathogenic | Propionic acidemia | 2023-02-28 | criteria provided, single submitter | clinical testing | PM2, PM3_Supporting, PS3_Very Strong |
| Baylor Genetics | RCV000012799 | SCV004205208 | pathogenic | Propionic acidemia | 2023-07-18 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000012799 | SCV000033039 | pathogenic | Propionic acidemia | 2007-12-01 | no assertion criteria provided | literature only |