Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209878 | SCV001381334 | uncertain significance | DICER1-related tumor predisposition | 2019-09-01 | 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 DICER1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the DICER1 gene (p.Leu1857Cysfs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the DICER1 protein. |