ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) (rs116076060)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562702 SCV000671266 likely benign Hereditary cancer-predisposing syndrome 2015-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000438768 SCV000518907 likely benign not specified 2017-12-19 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.
Integrated Genetics/Laboratory Corporation of America RCV000589822 SCV000698685 benign not provided 2016-08-17 criteria provided, single submitter clinical testing Variant summary: The POLE c.6453C>T (p.Tyr2151Tyr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 268/109324 control chromosomes at a frequency of 0.0024514, which is approximately 173 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. 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.
Invitae RCV000204183 SCV000262351 benign Colorectal cancer, susceptibility to, 12 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589822 SCV000806837 likely benign not provided 2017-06-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000438768 SCV000602082 likely benign not specified 2017-02-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589822 SCV000888564 benign not provided 2018-06-03 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000562702 SCV000805304 likely benign Hereditary cancer-predisposing syndrome 2018-05-21 no assertion criteria provided clinical testing

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