ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2255_2257del (p.Ser752del) (rs878854850)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233770 SCV000289294 uncertain significance Colorectal cancer, susceptibility to, 12 2015-12-07 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 20 of the POLE mRNA (c.2255_2257delCCT). This leads to the deletion of 1 amino acid residue in the POLE protein (p.Ser752del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000571523 SCV000676238 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985958 SCV001134698 uncertain significance not provided 2019-07-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000985958 SCV001148899 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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