ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) (rs200398117)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000988937 SCV000289346 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000482383 SCV000569043 uncertain significance not provided 2018-12-21 criteria provided, single submitter clinical testing This variant is denoted POLE c.3862G>A at the cDNA level, p.Ala1288Thr (A1288T) 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 Ala1288Thr was observed at an allele frequency of 0.06% (15/25,170) in individuals of Finnish ancestry in large population cohorts (Lek 2016). POLE Ala1288Thr 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 Ala1288Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000571531 SCV000671302 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign)
Mendelics RCV000988937 SCV001138874 uncertain significance Colorectal cancer, susceptibility to, 12 2019-05-28 criteria provided, single submitter clinical testing

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