ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.838dup (p.Leu280fs) (rs769968548)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667695 SCV000792186 likely pathogenic Propionic acidemia 2017-06-09 criteria provided, single submitter clinical testing
Invitae RCV000667695 SCV001214519 pathogenic Propionic acidemia 2020-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu280Profs*11) in the PCCB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769968548, ExAC 0.01%). This variant has been observed in an individual with propionic acidemia (PMID: 24863100). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552435). 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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