Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002536919 | SCV003523260 | pathogenic | Charcot-Marie-Tooth disease, type I | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr68*) in the MPZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MPZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 637508). For these reasons, this variant has been classified as Pathogenic. |
Inherited Neuropathy Consortium | RCV000789716 | SCV000929092 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |