Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535579 | SCV000636241 | pathogenic | Charcot-Marie-Tooth disease, type I | 2017-11-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln86*) in the MPZ gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). This variant was reported in an individual who was referred for genetic testing for Charcot-Marie-Tooth disease (PMID: 25614874). This variant is not present in population databases (ExAC no frequency). |
Inherited Neuropathy Consortium | RCV000789717 | SCV000929093 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |