Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001224583 | SCV001396791 | uncertain significance | Acute myeloid leukemia | 2023-09-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 57 of the CEBPA protein (p.Glu57Asp). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEBPA protein function. ClinVar contains an entry for this variant (Variation ID: 952466). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. |
| Ambry Genetics | RCV004963246 | SCV005558696 | uncertain significance | Inborn genetic diseases | 2024-11-22 | criteria provided, single submitter | clinical testing | The p.E57D variant (also known as c.171G>C), located in coding exon 1 of the CEBPA gene, results from a G to C substitution at nucleotide position 171. The glutamic acid at codon 57 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |