Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001869230 | SCV002239131 | pathogenic | Charcot-Marie-Tooth disease, type I | 2021-04-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 11160475). ClinVar contains an entry for this variant (Variation ID: 637773). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu71*) 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). |
Inherited Neuropathy Consortium | RCV000790085 | SCV000929475 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |