ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.532C>G (p.Leu178Val)

gnomAD frequency: 0.00001  dbSNP: rs1325138029
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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 RCV000631417 SCV000752490 uncertain significance Acute myeloid leukemia 2023-05-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 526799). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 178 of the CEBPA protein (p.Leu178Val).
Genetic Services Laboratory, University of Chicago RCV001821786 SCV002066659 uncertain significance not specified 2020-11-25 criteria provided, single submitter clinical testing This sequence change is absent from the large population databases such as ExAC and gnomAD (dbSNP rs1325138029). The p.Leu178Val change affects a moderately conserved amino acid residue located in a domain of the CEBPA protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Leu178Val substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Leu178Val change remains unknown at this time.
GeneDx RCV003327433 SCV004034944 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 29703253, 21455213, 30089904)
Baylor Genetics RCV000631417 SCV004212546 uncertain significance Acute myeloid leukemia 2023-10-17 criteria provided, single submitter clinical testing

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