ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5334C>T (p.Ala1778=) (rs11146986)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419617 SCV000518481 benign not specified 2016-01-11 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.
Invitae RCV001080797 SCV000556385 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000419617 SCV000602065 benign not specified 2016-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566021 SCV000671235 benign Hereditary cancer-predisposing syndrome 2015-07-02 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 RCV000587568 SCV000698678 benign not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The POLE c.5334C>T (p.Ala1778Ala) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 760/120604 control chromosomes (23 homozygotes), predominantly in the East Asian cohort at a frequency of 0.079643 (687/8626). This frequency is about 5607 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), suggesting this is likely a benign polymorphism found primarily in population(s) of East Asian origin. In addition, multiple clinical diagnostic laboratories classified this variant as benign. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000419617 SCV000806801 benign not specified 2017-07-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587568 SCV000888550 benign not provided 2016-07-07 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000566021 SCV000805303 likely benign Hereditary cancer-predisposing syndrome 2018-05-01 no assertion criteria provided clinical testing

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