ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.318del (p.Gly107fs)

dbSNP: rs1597607532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869232 SCV002241272 pathogenic Charcot-Marie-Tooth disease, type I 2025-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly107Valfs*4) in the PMP22 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acid(s) of the PMP22 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 15241803, 29896895; internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 637826). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000790150 SCV000929541 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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