ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) (rs5744991)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205459 SCV000262254 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000205459 SCV000488603 benign Colorectal cancer, susceptibility to, 12 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000431751 SCV000518013 benign not specified 2017-11-28 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 RCV000492172 SCV000581386 benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000431751 SCV000602075 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000431751 SCV000806818 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760027 SCV000889776 benign not provided 2016-08-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000431751 SCV000920070 benign not specified 2017-09-15 criteria provided, single submitter clinical testing Variant summary: The POLE c.5804G>A (p.Cys1935Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). The variant was found in the control population dataset of ExAC in 358/119342 control chromosomes at a frequency of 0.0029998, which is approximately 211 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 benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Benign.
True Health Diagnostics RCV000492172 SCV000788187 likely benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided clinical testing

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