ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser)

gnomAD frequency: 0.00003  dbSNP: rs1328994773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557517 SCV000627093 uncertain significance Acute myeloid leukemia 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 129 of the CEBPA protein (p.Pro129Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage 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: 456683). 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.
Genetic Services Laboratory, University of Chicago RCV001821501 SCV002068610 uncertain significance not specified 2019-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000557517 SCV004212545 uncertain significance Acute myeloid leukemia 2023-10-17 criteria provided, single submitter clinical testing

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