ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.655-2A>G

dbSNP: rs1553778865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 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, Revvity 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, Inc. RCV001293409 SCV002081482 likely pathogenic Propionic acidemia 2020-10-16 no assertion criteria provided clinical testing

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