ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)

dbSNP: rs1007915253
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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 RCV000550884 SCV000627095 uncertain significance Acute myeloid leukemia 2023-10-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 14 of the CEBPA protein (p.Pro14Arg). This variant is not present in population databases (gnomAD no frequency). 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: 456685). 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. 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 RCV001821502 SCV002070658 uncertain significance not specified 2019-05-03 criteria provided, single submitter clinical testing
GeneDx RCV002291656 SCV002584002 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD)
Baylor Genetics RCV000550884 SCV005057304 uncertain significance Acute myeloid leukemia 2023-11-17 criteria provided, single submitter clinical testing

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