ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.155G>A (p.Arg52Gln) (rs372459649)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657077 SCV000568363 uncertain significance not provided 2018-11-30 criteria provided, single submitter clinical testing This variant is denoted POLE c.155G>A at the cDNA level, p.Arg52Gln (R52Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGG>CAG). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. POLE Arg52Gln was observed at an allele frequency of 0.10% (36/34418) in individuals of Latino ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether POLE Arg52Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000471714 SCV000556421 likely benign Colorectal cancer, susceptibility to, 12 2017-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000486982 SCV000601982 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing

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