ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.846C>T (p.Pro282=) (rs5744758)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079650 SCV000289497 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000423707 SCV000518908 likely benign not specified 2018-01-29 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000232551 SCV000602101 benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570065 SCV000671273 benign Hereditary cancer-predisposing syndrome 2015-08-22 criteria provided, single submitter clinical testing In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
PreventionGenetics,PreventionGenetics RCV000423707 SCV000806857 benign not specified 2018-01-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000423707 SCV000920071 benign not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The POLE c.846C>T (p.Pro282Pro) variant involves the alteration of a non-conserved nucleotide located in the DNA-directed DNA polymerase, family B, exonuclease domain (IPR006133) (InterPro), resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. This variant was found in 282/277164 control chromosomes (2 homozygotes) in gnomAD at a frequency of 0.0010174, which is approximately 72 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
True Health Diagnostics RCV000570065 SCV000886717 likely benign Hereditary cancer-predisposing syndrome 2018-10-04 no assertion criteria provided clinical testing

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