Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525386 | SCV000627119 | uncertain significance | Acute myeloid leukemia | 2017-03-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CEBPA-related disease. This sequence change replaces glutamine with proline at codon 330 of the CEBPA protein (p.Gln330Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |