ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys)

dbSNP: rs369632687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703643 SCV000832552 uncertain significance Acute myeloid leukemia 2022-07-26 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 580178). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is present in population databases (rs369632687, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 334 of the CEBPA protein (p.Glu334Lys).
Department of Zoology, Division of Science and Technology, University of Education RCV000703643 SCV002106367 pathogenic Acute myeloid leukemia no assertion criteria provided clinical testing

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