ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) (rs1553784569)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673464 SCV000798668 likely pathogenic Propionic acidemia 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV000673464 SCV001583726 pathogenic Propionic acidemia 2020-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu421*) in the PCCB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with propionic acidemia (PMID: 27243974). ClinVar contains an entry for this variant (Variation ID: 557335). Loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). For these reasons, this variant has been classified as Pathogenic.

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