ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201146 SCV000255807 pathogenic Charcot-Marie-Tooth disease, type IA 2014-05-22 criteria provided, single submitter clinical testing
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).

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