ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del)

dbSNP: rs1600023841
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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 RCV000797960 SCV000937551 uncertain significance Acute myeloid leukemia 2018-12-16 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 for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with CEBPA-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant, c.225_227delCGA, results in the deletion of 1 amino acid(s) of the CEBPA protein (p.Asp75del), but otherwise preserves the integrity of the reading frame.

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