ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1399-2_1399-1del

gnomAD frequency: 0.00001  dbSNP: rs1317123493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384627 SCV001584198 pathogenic Propionic acidemia 2022-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1072010). Disruption of this splice site has been observed in individual(s) with propionic acidemia (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 present in population databases (no rsID available, gnomAD 0.007%). This sequence change affects a splice site in intron 13 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).
CeGaT Center for Human Genetics Tuebingen RCV001815545 SCV002062506 pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001384627 SCV004205219 pathogenic Propionic acidemia 2023-05-29 criteria provided, single submitter clinical testing

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