ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)

dbSNP: rs746430067
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463941 SCV000548543 uncertain significance Acute myeloid leukemia 2024-08-04 criteria provided, single submitter clinical testing This variant, c.564_566dup, results in the insertion of 1 amino acid(s) of the CEBPA protein (p.Pro189dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 408742). 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.
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV000463941 SCV002104201 likely 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
GeneDx RCV003153621 SCV003842401 uncertain significance not provided 2023-03-16 criteria provided, single submitter clinical testing In-frame insertion of 1 amino acid in a non-repeat region; Observed in an individual with pediatric acute myeloid leukemia (Molina Garay et al., 2022); This variant is associated with the following publications: (PMID: 21455213, 35967564)
Ambry Genetics RCV005306019 SCV005975257 uncertain significance Inborn genetic diseases 2024-12-31 criteria provided, single submitter clinical testing The c.564_566dupGCC variant (also known as p.P189dup), located in coding exon 1 of the CEBPA gene, results from an in-frame duplication of GCC at nucleotide positions 564 to 566. This results in the duplication of an extra proline residue between codons 189 and 190. This amino acid position is conserved on limited sequence alignment. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.

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