Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Functional Genomics, |
RCV005054118 | SCV005626399 | pathogenic | Charcot-Marie-Tooth disease axonal type 2Z | criteria provided, single submitter | clinical testing | Variant c.1397A>G in MORC2 was found in a patient with clinical signs of Charcot–Marie–Tooth disease. Segregation analysis was not performed. This variant was not found in large population databases. For functional characterization of the variant a vector, expressing MORC2 fused with Flag tag at C-terminal end, was created. Transfection of the plasmid into HEK293T cells followed by Western blotting revealed no reduction of MORC2 protein quantity compared to wt vector. In summary, c.1397A>G variant meets criteria to be classified as pathogenic. |