ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) (rs115558715)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086803 SCV000544095 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000484127 SCV000570767 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing This variant is denoted POLE c.1645T>C at the cDNA level, p.Ser549Pro (S549P) at the protein level, and results in the change of a Serine to a Proline (TCT>CCT). This variant has been reported in one individual with colon cancer (Kang 2014). POLE Ser549Pro was observed at an allele frequency of 0.09% (21/23,862) in individuals of African ancestry in large population cohorts (Lek 2016). This variant is located in Pol II/Motif A of the polymerase domain (Preston 2010). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether POLE Ser549Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Mendelics RCV000709274 SCV000838705 uncertain significance COLORECTAL CANCER 2018-07-02 criteria provided, single submitter clinical testing

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