ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val)

gnomAD frequency: 0.00006  dbSNP: rs372931505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230660 SCV000288503 uncertain significance Acute myeloid leukemia 2023-11-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 341 of the CEBPA protein (p.Ile341Val). This variant is present in population databases (rs372931505, gnomAD 0.008%). 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: 239918). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003148688 SCV002009845 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255141 SCV002529230 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-25 criteria provided, single submitter curation
GeneDx RCV003148688 SCV003836852 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with ovarian cancer (Kanchi et al., 2014); This variant is associated with the following publications: (PMID: 24448499, 21455213, 29025912)

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