ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2928C>T (p.Arg976=) (rs5744845)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079648 SCV000289313 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000421118 SCV000518029 benign not specified 2017-12-20 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 RCV000421118 SCV000602019 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572993 SCV000671271 likely benign Hereditary cancer-predisposing syndrome 2015-12-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000421118 SCV000806753 benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759276 SCV000888513 benign not provided 2016-11-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000421118 SCV000920066 benign not specified 2017-10-26 criteria provided, single submitter clinical testing Variant summary: The POLE c.2928C>T (p.Arg976Arg) 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. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 860/251218 control chromosomes at a frequency of 0.0034233, which is approximately 241 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/Likely 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 RCV000572993 SCV000788172 likely benign Hereditary cancer-predisposing syndrome 2017-11-30 no assertion criteria provided clinical testing

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