Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462206 | SCV000548546 | uncertain significance | Acute myeloid leukemia | 2023-07-12 | criteria provided, single submitter | clinical testing | This variant is also known as 744-745GC>TT. This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 199 of the CEBPA protein (p.Ala199Leu). This variant is present in population databases (no rsID available, gnomAD 0.004%). This missense change has been observed in individual(s) with acute myeloid leukemia (PMID: 18768433). ClinVar contains an entry for this variant (Variation ID: 408745). 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. 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. |
Baylor Genetics | RCV000462206 | SCV004212552 | uncertain significance | Acute myeloid leukemia | 2023-09-15 | criteria provided, single submitter | clinical testing |