ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del)

dbSNP: rs746430067
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794498 SCV000933910 uncertain significance Acute myeloid leukemia 2019-04-14 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with CEBPA-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.564_566delGCC, results in the deletion of 1 amino acid(s) of the CEBPA protein (p.Pro189del), but otherwise preserves the integrity of the reading frame.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811487 SCV002049152 benign not provided 2021-07-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259016 SCV002531757 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-18 criteria provided, single submitter curation
Ambry Genetics RCV004609526 SCV005105502 benign Inborn genetic diseases 2024-03-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003983205 SCV004796601 likely benign CEBPA-related disorder 2019-03-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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