ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.96C>A (p.Gly32=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003634552 SCV004401197 uncertain significance Acute myeloid leukemia 2023-10-13 criteria provided, single submitter clinical testing This sequence change affects codon 32 of the CEBPA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEBPA protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

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