Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214772 | SCV001386475 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-06-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 sequence change creates a premature translational stop signal (p.Arg144*) in the MTMR2 gene. It is expected to result in an absent or disrupted protein product. |