ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.4461C>T (p.Ile1487=) (rs536917758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086058 SCV000556305 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000478376 SCV000570104 uncertain significance not provided 2016-04-25 criteria provided, single submitter clinical testing This variant is denoted POLE c.4461C>T at the DNA level. This variant is silent at the coding level, preserving an Isoleucine at codon 1487. It is not predicted to cause abnormal splicing. POLE c.4461C>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a cytosine (C) at base 4461, is conserved through mammals. Based on the currently available information, it is unclear whether POLE c.4461C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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