Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001879155 | SCV002141852 | uncertain significance | Acute myeloid leukemia | 2020-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with arginine at codon 192 of the CEBPA protein (p.Pro192Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline 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. This variant has not been reported in the literature in individuals with CEBPA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV005320925 | SCV005979063 | uncertain significance | Inborn genetic diseases | 2025-01-17 | criteria provided, single submitter | clinical testing | The p.P192R variant (also known as c.575C>G), located in coding exon 1 of the CEBPA gene, results from a C to G substitution at nucleotide position 575. The proline at codon 192 is replaced by arginine, an amino acid with dissimilar 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. |