ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.588G>C (p.Pro196=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003633011 SCV004462942 uncertain significance Acute myeloid leukemia 2023-07-07 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 196 of the CEBPA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEBPA protein.

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