ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2119-9A>G (rs1389933015)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534995 SCV000631905 likely pathogenic Propionic acidemia 2020-01-31 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the PCCA gene. It does not directly change the encoded amino acid sequence of the PCCA protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with propionic acidemia (PMID: 22033733, Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000534995 SCV001482009 pathogenic Propionic acidemia 2021-02-17 criteria provided, single submitter research PS3, PM2, PM3, PP3, PP4

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