ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.776C>T (p.Ala259Val)

gnomAD frequency: 0.00001  dbSNP: rs746895795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503819 SCV000593995 uncertain significance not specified 2017-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524166 SCV003263858 uncertain significance Acute myeloid leukemia 2023-05-31 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 434684). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is present in population databases (rs746895795, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 259 of the CEBPA protein (p.Ala259Val).

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