Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000638153 | SCV000759639 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr145Serfs*16) in the MPZ gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual who was referred to a clinical laboratory for genetic testing for Charcot-Marie-Tooth disease (PMID:25614874). Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). For these reasons, this variant has been classified as Pathogenic. |
| Athena Diagnostics Inc | RCV001289099 | SCV001476690 | pathogenic | not provided | 2020-04-30 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
| Inherited Neuropathy Consortium | RCV000790074 | SCV000929464 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |