ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4541T>C (p.Val1514Ala) (rs116742454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079712 SCV000556424 likely benign Colorectal cancer, susceptibility to, 12 2019-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000482763 SCV000572232 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing This variant is denoted POLE c.4541T>C at the cDNA level, p.Val1514Ala (V1514A) at the protein level, and results in the change of a Valine to an Alanine (GTG>GCG). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. POLE Val1514Ala was observed at an allele frequency of 0.26% (49/18,820) in individuals of East Asian 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 Val1514Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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