ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu)

gnomAD frequency: 0.00003  dbSNP: rs1311096326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547234 SCV000627092 uncertain significance Acute myeloid leukemia 2023-11-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 122 of the CEBPA protein (p.Gly122Glu). This variant is present in population databases (no rsID available, gnomAD 0.1%). 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: 456682). 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.
Fulgent Genetics, Fulgent Genetics RCV000547234 SCV000896724 uncertain significance Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV003105944 SCV003761722 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15756005, 25468431)
Baylor Genetics RCV000547234 SCV005057279 uncertain significance Acute myeloid leukemia 2024-03-11 criteria provided, single submitter clinical testing

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