Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001969381 | SCV002260758 | uncertain significance | Acute myeloid leukemia | 2021-04-09 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant, c.310_315dup, results in the insertion of 2 amino acid(s) to the CEBPA protein (p.Gly104_Asp105dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with CEBPA-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |