ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu)

dbSNP: rs2145260930
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001973262 SCV002255718 uncertain significance Acute myeloid leukemia 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 208 of the CEBPA protein (p.Phe208Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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