ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2550C>T (p.Ile850=) (rs5744834)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203933 SCV000262402 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000203933 SCV000488598 benign Colorectal cancer, susceptibility to, 12 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000419373 SCV000518006 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 RCV000419373 SCV000602006 benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564677 SCV000671232 benign Hereditary cancer-predisposing syndrome 2015-05-21 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
Integrated Genetics/Laboratory Corporation of America RCV000588078 SCV000698667 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The POLE c.2550C>T (p.Ile850Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 524/121336 control chromosomes (13 homozygotes) at a frequency of 0.0043186, which is approximately 304 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000419373 SCV000806749 benign not specified 2017-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588078 SCV000889728 benign not provided 2016-08-17 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000564677 SCV000788169 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing

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