ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln)

dbSNP: rs1967183728
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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 RCV001958218 SCV002222958 uncertain significance Acute myeloid leukemia 2021-06-08 criteria provided, single submitter clinical testing 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. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CEBPA-related conditions. This sequence change replaces proline with glutamine at codon 153 of the CEBPA protein (p.Pro153Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine.

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