ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys)

gnomAD frequency: 0.00001  dbSNP: rs1439202716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001886838 SCV002161341 uncertain significance Acute myeloid leukemia 2022-06-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.1%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 343 of the CEBPA protein (p.Arg343Cys). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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