Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001338310 | SCV001531971 | uncertain significance | Acute myeloid leukemia | 2023-04-19 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1035441). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 34 of the CEBPA protein (p.Pro34Thr). |
| Ambry Genetics | RCV002546843 | SCV003559402 | uncertain significance | Inborn genetic diseases | 2021-06-11 | criteria provided, single submitter | clinical testing | The c.100C>A (p.P34T) alteration is located in exon 1 (coding exon 1) of the CEBPA gene. This alteration results from a C to A substitution at nucleotide position 100, causing the proline (P) at amino acid position 34 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV001338310 | SCV004212557 | uncertain significance | Acute myeloid leukemia | 2023-08-30 | criteria provided, single submitter | clinical testing |