ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) (rs572246667)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000341685 SCV000800299 likely pathogenic Propionyl-CoA carboxylase deficiency 2018-06-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186088 SCV000338743 pathogenic not provided 2016-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000186088 SCV000239112 pathogenic not provided 2016-10-11 criteria provided, single submitter clinical testing The Y314X nonsense variant in the PCCB gene has been reported previously in association with propionic acidemia (Lévesque et al. 2012). The Y314X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret Y314X to be a pathogenic variant.

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