ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4680C>T (p.Asp1560=) (rs774425403)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086263 SCV000556358 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000487049 SCV000572339 uncertain significance not provided 2018-09-19 criteria provided, single submitter clinical testing This variant is denoted POLE c.4680C>T at the DNA level. It is silent at the coding level, preserving an Aspartic Acid at codon 1560. In-silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether POLE c.4680C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000568706 SCV000671522 likely benign Hereditary cancer-predisposing syndrome 2016-05-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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