Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000818650 | SCV000959275 | uncertain significance | Acute myeloid leukemia | 2023-07-22 | criteria provided, single submitter | clinical testing | 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 expected to disrupt CEBPA protein function. ClinVar contains an entry for this variant (Variation ID: 661265). This missense change has been observed in individual(s) with familial acute myelogenous leukemia (PMID: 23926458). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 297 of the CEBPA protein (p.Arg297Leu). |
| Gene |
RCV003151819 | SCV003840870 | uncertain significance | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with a personal and/or family history of acute myeloid leukemia referred for genetic testing at GeneDx and in published literature (Taskesen et al., 2011); This variant is associated with the following publications: (PMID: 23926458, 28637622, 21455213, 21177436) |