ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg)

dbSNP: rs2145262262
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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 RCV002010566 SCV002295192 uncertain significance Acute myeloid leukemia 2021-06-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CEBPA-related conditions. 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 sequence change replaces leucine with arginine at codon 139 of the CEBPA protein (p.Leu139Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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