ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu)

gnomAD frequency: 0.00001  dbSNP: rs917977456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501604 SCV000593997 uncertain significance not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000703824 SCV000832745 uncertain significance Acute myeloid leukemia 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 82 of the CEBPA protein (p.Phe82Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 434685). 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 RCV000703824 SCV004214805 uncertain significance Acute myeloid leukemia 2023-08-05 criteria provided, single submitter clinical testing

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