ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu)

dbSNP: rs2145258913
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978093 SCV002257524 uncertain significance Acute myeloid leukemia 2021-07-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Gln311 amino acid residue in CEBPA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26721895). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with leucine at codon 311 of the CEBPA protein (p.Gln311Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine.

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