ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2469-15G>A (rs5744833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438788 SCV000518028 benign not specified 2015-11-11 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.
Integrated Genetics/Laboratory Corporation of America RCV000586683 SCV000698666 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: c.2469-15G>A in POLE gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not have a major effect normal on splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.022 (2623/120098 chrs tested), predominantly in individuals of African descent 0.237 (2429/10264 chrs tested), including numerous homozygous occurrences. The observed frequency greatly exceeds the maximum expected allele frequency for a pathogenic variant of 0.00001%, suggesting that it is a benign polymorphism. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
PreventionGenetics,PreventionGenetics RCV000438788 SCV000806748 benign not specified 2016-11-09 criteria provided, single submitter clinical testing

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