ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)

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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 RCV003634321 SCV004552992 uncertain significance Acute myeloid leukemia 2023-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu334*) in the CEBPA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the CEBPA protein. 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 functional significance of this variant 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).

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