ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.83G>A (p.Trp28Ter)

dbSNP: rs1555568475
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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 RCV000638157 SCV000759643 pathogenic Charcot-Marie-Tooth disease, type I 2024-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp28*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary neuropathy with liability to pressure palsies (internal data). ClinVar contains an entry for this variant (Variation ID: 531680). For these reasons, this variant has been classified as Pathogenic.

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