ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) (rs367970442)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227270 SCV000289475 likely benign Colorectal cancer, susceptibility to, 12 2019-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000482379 SCV000572100 uncertain significance not provided 2019-01-08 criteria provided, single submitter clinical testing This variant is denoted POLE c.6668A>G at the cDNA level, p.Lys2223Arg (K2223R) at the protein level, and results in the change of a Lysine to an Arginine (AAG>AGG). This variant has been observed in two Southeast Asian women with endometrial cancer (Wong 2016). POLE Lys2223Arg was observed at an allele frequency of 0.23% (44/18,856) in individuals of East Asian ancestry in large population cohorts (Lek 2016). This variant is located in the zinc finger domains (Tahirov 2009). 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 Lys2223Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000569077 SCV000671399 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence
Counsyl RCV000227270 SCV000784878 uncertain significance Colorectal cancer, susceptibility to, 12 2017-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000709238 SCV000838669 uncertain significance COLORECTAL CANCER 2018-07-02 criteria provided, single submitter clinical testing

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