Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
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, |
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 |