ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del)

dbSNP: rs780345232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543650 SCV000627089 uncertain significance Acute myeloid leukemia 2024-08-27 criteria provided, single submitter clinical testing This variant, c.308_313del, results in the deletion of 2 amino acid(s) of the CEBPA protein (p.Gly103_Gly104del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 456679). 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.
Genetic Services Laboratory, University of Chicago RCV001821500 SCV002069227 uncertain significance not specified 2020-12-01 criteria provided, single submitter clinical testing DNA sequence analysis of the CEBPA gene demonstrated a 6 base pair deletion in exon 1, c.308_313del. This in-frame deletion is predicted to result in the deletion of 2 amino acid residues, p.Gly103_Gly104del. This sequence change has been described in the gnomAD database in one individual with an overall population frequency of 0.0018% (dbSNP rs780345232), and does not appear to have been previously described in patients with CEBPA-related disorders. The functional significance of this sequence change is not known at present and its contribution to a disease phenotype cannot definitively be determined.
GeneDx RCV003105943 SCV003761956 uncertain significance not provided 2022-07-28 criteria provided, single submitter clinical testing In-frame deletion of 2 amino acids in a repetitive region with no known function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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