ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064133 SCV001229013 likely pathogenic Acute myeloid leukemia 2019-09-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CEBPA gene (p.Glu148*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 211 amino acids of the CEBPA protein. 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 has been observed in an individual affected with acute myeloid leukemia (PMID: 29296967). This variant disrupts the p.Gln311 amino acid residue in CEBPA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26721895). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. This variant disrupts the p.Gln311 amino acid residue in CEBPA. Other variant(s) that disrupt this residue has been observed in individuals with CEBPA-related conditions (PMID: 26721895). This suggests that this may be a clinically significant region of the CEBPA protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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