ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg)

dbSNP: rs1247330890
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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 RCV001879155 SCV002141852 uncertain significance Acute myeloid leukemia 2020-12-02 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 tolerated, but 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 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 proline with arginine at codon 192 of the CEBPA protein (p.Pro192Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine.

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