ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2320-13A>G (rs75329753)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434941 SCV000518045 benign not specified 2015-11-12 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 RCV000588219 SCV000698664 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The POLE c.2320-13A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 723/118988 control chromosomes (15 homozygotes) at a frequency of 0.0060762, which is approximately 428 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000434941 SCV000806742 benign not specified 2016-11-22 criteria provided, single submitter clinical testing

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