Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001973293 | SCV002251942 | uncertain significance | Acute myeloid leukemia | 2021-06-02 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CEBPA-related conditions. This variant is present in population databases (rs543441756, ExAC 0.009%). This sequence change replaces asparagine with tyrosine at codon 356 of the CEBPA protein (p.Asn356Tyr). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and tyrosine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |