Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001885683 | SCV002137952 | uncertain significance | Acute myeloid leukemia | 2021-10-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This sequence change replaces glutamine with arginine at codon 20 of the CEBPA protein (p.Gln20Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV004980844 | SCV005558729 | uncertain significance | Inborn genetic diseases | 2024-10-05 | criteria provided, single submitter | clinical testing | The p.Q20R variant (also known as c.59A>G), located in coding exon 1 of the CEBPA gene, results from an A to G substitution at nucleotide position 59. The glutamine at codon 20 is replaced by arginine, 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. |