Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065553 | SCV001230514 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-07-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MTMR2 are known to be pathogenic (PMID: 10802647). This variant has not been reported in the literature in individuals with MTMR2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser292Valfs*57) in the MTMR2 gene. It is expected to result in an absent or disrupted protein product. |