Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000701655 | SCV000830467 | uncertain significance | Acute myeloid leukemia | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 138 of the CEBPA protein (p.Tyr138Phe). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 578594). 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. 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. |
| Prevention |
RCV003983173 | SCV004800552 | uncertain significance | CEBPA-related disorder | 2024-02-06 | criteria provided, single submitter | clinical testing | The CEBPA c.413A>T variant is predicted to result in the amino acid substitution p.Tyr138Phe. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. In ClinVar, this variant is interpreted as uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/578594/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |