ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro)

dbSNP: rs1555742145
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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 RCV000631422 SCV000752495 uncertain significance Acute myeloid leukemia 2017-12-04 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEBPA-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glutamine with proline at codon 182 of the CEBPA protein (p.Gln182Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline.

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