ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro)

dbSNP: rs1568419793
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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 RCV000702183 SCV000831026 uncertain significance Acute myeloid leukemia 2022-06-15 criteria provided, single submitter clinical testing This variant, c.558_568delinsCTCGCACC, is a complex sequence change that results in the deletion of 4 and insertion of 3 amino acid(s) in the CEBPA protein (p.Pro187_Ser190delinsSerHisPro). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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 functional significance of this variant 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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