ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.435C>A (p.Pro145=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002829953 SCV003214595 uncertain significance Acute myeloid leukemia 2022-07-05 criteria provided, single submitter clinical testing This sequence change affects codon 145 of the CEBPA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CEBPA protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. 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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