ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln)

gnomAD frequency: 0.00001  dbSNP: rs1198903435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218785 SCV001390688 uncertain significance Acute myeloid leukemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 156 of the CEBPA protein (p.Arg156Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 947669). This variant has not been reported in the literature in individuals affected 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.

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