ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)

dbSNP: rs1967162539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056113 SCV001220534 uncertain significance Acute myeloid leukemia 2023-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln311*) in the CEBPA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the CEBPA protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 851673). 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.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269597 SCV001449692 pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing

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