ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) (rs863225028)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000627222 SCV000255807 pathogenic not provided 2018-12-27 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. Moderate co-segregation with disease in affected individuals from a single family.
GeneDx RCV000627222 SCV000748210 pathogenic not provided 2018-04-05 criteria provided, single submitter clinical testing The C109X nonsense variant in the PMP22 gene has been reported previously to segregate with Charcot-Marie-Tooth disease in multiple affected individuals from two unrelated families in the published literature (Abe et al., 2004; Resko et al., 2011). This pathogenic variant is predicted to result in protein truncation, as the last 52 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014). The C109X variant is not observed in large population cohorts (Lek et al., 2016).
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173911 SCV001337028 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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