ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr)

gnomAD frequency: 0.00011  dbSNP: rs921077083
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631418 SCV000752491 uncertain significance Acute myeloid leukemia 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 237 of the CEBPA protein (p.Pro237Thr). This variant is present in population databases (no rsID available, gnomAD 0.04%). 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: 526800). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEBPA protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000631418 SCV000896722 uncertain significance Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257873 SCV002537441 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-11 criteria provided, single submitter curation
GeneDx RCV002528854 SCV003194808 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV000631418 SCV004212550 uncertain significance Acute myeloid leukemia 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025399 SCV004921486 likely benign Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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