ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4534G>A (p.Val1512Ile) (rs147354120)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079724 SCV000289390 likely benign Colorectal cancer, susceptibility to, 12 2019-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000657101 SCV000569020 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing This variant is denoted POLE c.4534G>A at the cDNA level, p.Val1512Ile (V1512I) at the protein level, and results in the change of a Valine to an Isoleucine (GTC>ATC). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. POLE Val1512Ile was observed at an allele frequency of 0.17% (40/23,762) 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 that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether POLE Val1512Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482591 SCV000602049 uncertain significance not specified 2017-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572754 SCV000671248 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient or conflicting evidence
PreventionGenetics,PreventionGenetics RCV000657101 SCV000806786 likely benign not provided 2017-03-20 criteria provided, single submitter clinical testing

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