ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.3881G>A (p.Arg1294His) (rs115455318)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080818 SCV000289349 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000657091 SCV000568921 uncertain significance not provided 2018-10-30 criteria provided, single submitter clinical testing This variant is denoted POLE c.3881G>A at the cDNA level, p.Arg1294His (R1294H) at the protein level, and results in the change of an Arginine to a Histidine (CGT>CAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLE Arg1294His was observed at an allele frequency of 0.15% (35/23370) in individuals of African ancestry in large population cohorts (Lek 2016). POLE Arg1294His 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 Arg1294His is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000485454 SCV000602037 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing

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