ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) (rs139182500)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079698 SCV000544188 likely benign Colorectal cancer, susceptibility to, 12 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000657113 SCV000569231 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is denoted POLE c.2510T>C at the cDNA level, p.Phe837Ser (F837S) at the protein level, and results in the change of a Phenylalanine to a Serine (TTC>TCC). This variant was observed in an individual undergoing genetic testing due to a personal history of an advanced cancer of unspecified type (Mandelker 2017). POLE Phe837Ser was observed at an allele frequency of 0.4% (43/10,150) in individuals of Ashkenazi Jewish ancestry in large population cohorts (Lek 2016). This variant is located in motif B 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 Phe837Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478239 SCV000602004 uncertain significance not specified 2016-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573358 SCV000671291 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence

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