ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.296C>T (p.Pro99Leu) (rs5744739)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081439 SCV000289316 likely benign Colorectal cancer, susceptibility to, 12 2019-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000657106 SCV000293790 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is denoted POLE c.296C>T at the cDNA level, p.Pro99Leu (P99L) at the protein level, and results in the change of a Proline to a Leucine (CCC>CTC). This variant was observed in at least one individual with cancer undergoing multi-gene panel testing (Mandelker 2017). POLE Pro99Leu was observed at an allele frequency of 0.41% (99/24,028) in individuals of African 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 Pro99Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000657106 SCV000602022 benign not provided 2019-06-18 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000664291 SCV000788173 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-26 no assertion criteria provided clinical testing

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