ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) (rs753981900)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668811 SCV000793475 likely pathogenic Propionic acidemia 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV000668811 SCV001221549 pathogenic Propionic acidemia 2019-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg111*) in the PCCB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs753981900, ExAC 0.01%). This variant has been observed in individuals affected with propionic acidemia (PMID: 22334403, 23430860). ClinVar contains an entry for this variant (Variation ID: 553380). Loss-of-function variants in PCCB are known to be pathogenic (PMID: 15464417). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000668811 SCV001454516 pathogenic Propionic acidemia 2020-09-16 no assertion criteria provided clinical testing

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