Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231912 | SCV001404449 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-10-24 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with MTMR2-related conditions. This variant is present in population databases (rs769866540, ExAC 0.006%). This sequence change results in a premature translational stop signal in the MTMR2 gene (p.Glu617Aspfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acids of the MTMR2 protein. |