ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.252C>G (p.His84Gln)

gnomAD frequency: 0.00002  dbSNP: rs878854700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228351 SCV000288505 uncertain significance Acute myeloid leukemia 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 84 of the CEBPA protein (p.His84Gln). This variant is not present in population databases (gnomAD no frequency). 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: 239920). 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.
Revvity Omics, Revvity RCV000228351 SCV003831548 uncertain significance Acute myeloid leukemia 2022-03-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000228351 SCV004214803 uncertain significance Acute myeloid leukemia 2023-08-07 criteria provided, single submitter clinical testing

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