ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala)

dbSNP: rs1568419235
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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 RCV001326490 SCV001517521 uncertain significance Acute myeloid leukemia 2020-08-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CEBPA-related conditions. This sequence change replaces glutamic acid with alanine at codon 309 of the CEBPA protein (p.Glu309Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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