ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.982_985del (p.Val328fs)

dbSNP: rs1967160131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341776 SCV001535667 uncertain significance Acute myeloid leukemia 2020-03-03 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. This variant has not been reported in the literature in individuals with CEBPA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the CEBPA gene (p.Val328Asnfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acids of the CEBPA protein.

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