ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3379-5T>C (rs5744886)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437378 SCV000518019 benign not specified 2015-11-06 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000437378 SCV000540084 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV001079607 SCV000556425 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492126 SCV000581377 benign Hereditary cancer-predisposing syndrome 2015-05-20 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 RCV000590570 SCV000698671 benign not provided 2016-05-19 criteria provided, single submitter clinical testing Variant summary: c.3379-5T>C in POLE gene is an intronic change that involves a non-conserved nucleotide. The variant is present in the control population dataset of ExAC at frequency of 0.0333 (3963/118996 chrs tested), predominantly in individuals of Latin descent (0.17; 1945/11380 chrs tested) including numerous homozygous occurrences. The observed frequencies exceed the maximum expected allele frequency for a pathogenic variant of 0.0014%, suggesting that it is a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports or cited by reputable databases/clinical laboratory. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
PreventionGenetics,PreventionGenetics RCV000437378 SCV000806761 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000492126 SCV000788175 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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