Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687958 | SCV000815553 | uncertain significance | Perlman syndrome | 2018-06-24 | 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 DIS3L2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the DIS3L2 gene (p.His806Leufs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 80 amino acids of the DIS3L2 protein. |