ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) (rs113998091)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080997 SCV000544006 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000478471 SCV000569978 uncertain significance not provided 2018-11-08 criteria provided, single submitter clinical testing This variant is denoted POLE c.1534G>A at the cDNA level, p.Ala512Thr (A512T) at the protein level, and results in the change of an Alanine to a Threonine (GCC>ACC). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. POLE Ala512Thr was observed at an allele frequency of 0.13% (32/23,924) 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 Ala512Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Mendelics RCV000709275 SCV000838706 uncertain significance COLORECTAL CANCER 2018-07-02 criteria provided, single submitter clinical testing

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