ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.434del (p.Leu145fs) (rs863225029)

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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 RCV000201019 SCV000255808 pathogenic Charcot-Marie-Tooth disease, type IA 2014-07-30 criteria provided, single submitter clinical testing
Invitae RCV000638170 SCV000759656 pathogenic Charcot-Marie-Tooth disease, type I 2018-02-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PMP22 gene (p.Leu145Argfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the PMP22 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with hereditary neuropathy with liability to pressure palsy (HNPP) and has been reported to segregate with disease in affected families (PMID: 23965407, 21252112, 21149811). ClinVar contains an entry for this variant (Variation ID: 217238). For these reasons, this variant has been classified as Pathogenic.

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