Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001341776 | SCV001535667 | uncertain significance | Acute myeloid leukemia | 2020-03-03 | 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 CEBPA-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 CEBPA gene (p.Val328Asnfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acids of the CEBPA protein. |