Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001352067 | SCV001546592 | uncertain significance | Acute myeloid leukemia | 2020-01-28 | criteria provided, single submitter | clinical testing | 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. 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"). This variant has not been reported in the literature in individuals with CEBPA-related conditions. This sequence change replaces serine with isoleucine at codon 21 of the CEBPA protein (p.Ser21Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. |
| Ambry Genetics | RCV004978396 | SCV005558758 | uncertain significance | Inborn genetic diseases | 2024-12-09 | criteria provided, single submitter | clinical testing | The p.S21I variant (also known as c.62G>T), located in coding exon 1 of the CEBPA gene, results from a G to T substitution at nucleotide position 62. The serine at codon 21 is replaced by isoleucine, 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. |