ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) (rs5745066)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205499 SCV000261754 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000205499 SCV000488522 likely benign Colorectal cancer, susceptibility to, 12 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000425561 SCV000518041 benign not specified 2017-04-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000492468 SCV000581384 benign Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425561 SCV000602081 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586408 SCV000698683 benign not provided 2016-08-17 criteria provided, single submitter clinical testing Variant summary: The c.6418G>A (p.Glu2140Lysl) in POLE gene is a missense change that involves a conserved nucleotide and 4/5 in silico tools predict benign outcome. The variant is present in the control population dataset of ExAC at an overall frequency 0.0159 (1899/119208 chrs tested) predominantly in individuals of European ancestry (0.025; 1784/72012 chrs tested). The latter frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.000014). The variant has not, to our knowledge, been reported in affected individuals, but is cited as Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as Benign.
PreventionGenetics,PreventionGenetics RCV000425561 SCV000806835 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586408 SCV000888563 benign not provided 2017-09-04 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000492468 SCV000788190 likely benign Hereditary cancer-predisposing syndrome 2018-02-15 no assertion criteria provided clinical testing

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