ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp)

dbSNP: rs2145260788
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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 RCV001916919 SCV002196212 uncertain significance Acute myeloid leukemia 2021-02-10 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 glycine with aspartic acid at codon 223 of the CEBPA protein (p.Gly223Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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