ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.281del (p.Gly94fs)

dbSNP: rs80338763
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388384 SCV001589350 pathogenic Charcot-Marie-Tooth disease, type I 2024-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly94Alafs*17) in the PMP22 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 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 CMT and Dejerine‚àíSottas syndrome (PMID: 9324088, 11545686, 11835375, 19067730, 26392352). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 30158). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001507376 SCV001712897 pathogenic not provided 2020-07-30 criteria provided, single submitter clinical testing PVS1_Strong, PS4_Moderate, PM2, PM6, PP4
OMIM RCV000023074 SCV000044365 pathogenic Charcot-Marie-Tooth disease, type IA 2009-03-01 no assertion criteria provided literature only
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000755044 SCV000882762 pathogenic Charcot-Marie-Tooth disease type 1E 2019-02-11 no assertion criteria provided research
Inherited Neuropathy Consortium RCV000790158 SCV000929549 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Genesis Genome Database RCV000790158 SCV000999589 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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