ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.247del (p.Gln83fs)

dbSNP: rs1967192886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269705 SCV001449898 pathogenic not provided 2017-09-04 criteria provided, single submitter clinical testing
GeneDx RCV001269705 SCV001780918 likely pathogenic not provided 2020-09-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 276 amino acids are replaced with 76 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32855275, 29861846, 20970189, 21354046, 31540291)
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV002282506 SCV002104210 pathogenic Acute myeloid leukemia criteria provided, single submitter clinical testing The variant was detected in bone marrow from patients, but it was not confirmed in the matched

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