ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp)

dbSNP: rs971619935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001993635 SCV002252204 uncertain significance Acute myeloid leukemia 2021-10-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. 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. 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. This sequence change replaces arginine with tryptophan at codon 288 of the CEBPA protein (p.Arg288Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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