Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227901 | SCV000288502 | uncertain significance | Acute myeloid leukemia | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 340 of the CEBPA protein (p.Gly340Ser). This variant is present in population databases (rs375833261, gnomAD 0.006%). This missense change has been observed in individual(s) with acute myeloid leukemia and myelodysplastic syndrome (PMID: 14726504, 18768433, 24220272, 36879149). This variant is also known as 1609G>A and 1167G>A. ClinVar contains an entry for this variant (Variation ID: 239917). 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 with a negative predictive value of 80%. 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 | RCV000227901 | SCV004212551 | uncertain significance | Acute myeloid leukemia | 2023-09-15 | criteria provided, single submitter | clinical testing |