Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001041106 | SCV001204702 | pathogenic | Charcot-Marie-Tooth disease, type I | 2023-07-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MPZ protein in which other variant(s) (p.Lys236del) have been determined to be pathogenic (PMID: 12207932, 15716547, 29687021, 31173589). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 839368). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu234*) in the MPZ gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the MPZ protein. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001805988 | SCV002051596 | uncertain significance | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | PM2 |