ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.139del (p.Ser47fs)

dbSNP: rs2508211771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003741724 SCV004409143 pathogenic Charcot-Marie-Tooth disease, type I 2022-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser47Glnfs*23) in the PMP22 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMP22 are known to be pathogenic (PMID: 23224996). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PMP22-related conditions. This variant is not present in population databases (gnomAD no frequency).

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