ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2340G>A (p.Ser780=) (rs5744822)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423956 SCV000518032 benign not specified 2016-12-01 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 RCV000470624 SCV000556418 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492210 SCV000581383 benign Hereditary cancer-predisposing syndrome 2015-05-19 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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000423956 SCV000602000 benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589595 SCV000698665 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The POLE c.2340G>A (p.Ser780Ser) variant causes a synonymous change involving a non-conserved nucleotide with 4/5 splice prediction tools predicting no significant impact on splicing, while ESE finder predicts alterations to ESE binding sites. However, these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2835/120810 (40 homozygotes, 1/42, frequency: 0.0234666), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic POLE variant of 1/70422 (0.0000142), suggesting this variant is likely a benign polymorphism. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
PreventionGenetics,PreventionGenetics RCV000423956 SCV000806743 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589595 SCV000889723 benign not provided 2016-10-28 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000492210 SCV000788168 likely benign Hereditary cancer-predisposing syndrome 2018-02-28 no assertion criteria provided clinical testing

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