ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.3913G>A (p.Gly1305Arg) (rs563990655)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079740 SCV000289353 likely benign Colorectal cancer, susceptibility to, 12 2019-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000478117 SCV000568976 uncertain significance not provided 2018-10-25 criteria provided, single submitter clinical testing This variant is denoted POLE c.3913G>A at the cDNA level, p.Gly1305Arg (G1305R) at the protein level, and results in the change of a Glycine to an Arginine (GGG>AGG). This variant has been observed in at least one individual with advanced cancer (Mandelker 2017). POLE Gly1305Arg was observed at an allele frequency of 0.33% (104/30,762) in individuals of South 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 a deleterious effect. Based on currently available evidence, it is unclear whether POLE Gly1305Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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