ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) (rs5744799)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203851 SCV000262448 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210797 SCV000267080 benign Hereditary cancer-predisposing syndrome 2015-12-01 criteria provided, single submitter clinical testing
Counsyl RCV000203851 SCV000488482 benign Colorectal cancer, susceptibility to, 12 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000436630 SCV000518483 benign not specified 2015-11-11 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 RCV000436630 SCV000601993 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000210797 SCV000671226 benign Hereditary cancer-predisposing syndrome 2015-06-01 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Integrated Genetics/Laboratory Corporation of America RCV000587390 SCV000698658 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The POLE c.2083T>A (p.Phe695Ile) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 1301/118614 control chromosomes (12 homozygotes) at a frequency of 0.0109684, which is approximately 772 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 classified this variant as benign. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000436630 SCV000806736 benign not specified 2016-12-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587390 SCV000888503 benign not provided 2017-06-21 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000210797 SCV000788164 likely benign Hereditary cancer-predisposing syndrome 2017-12-29 no assertion criteria provided clinical testing

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