ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1389933015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534995 SCV000631905 pathogenic Propionic acidemia 2024-01-28 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. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with propionic acidemia (PMID: 22033733; Invitae). ClinVar contains an entry for this variant (Variation ID: 459938). Studies have shown that this variant results in activation of a cryptic splice site and introduces a new termination codon (PMID: 33923806). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as 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
Baylor Genetics RCV000534995 SCV004202854 likely pathogenic Propionic acidemia 2023-08-31 criteria provided, single submitter clinical testing

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