ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.755C>T (p.Ala252Val) (rs5744751)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432835 SCV000517993 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.
Ambry Genetics RCV000492593 SCV000581373 benign Hereditary cancer-predisposing syndrome 2015-05-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589827 SCV000698688 benign not provided 2016-05-24 criteria provided, single submitter clinical testing Variant summary: The POLE c.755C>T (p.Ala252Val) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome (Mutation Taster not captured due to low p-value). This variant was found in 10401/121392 control chromosomes (545 homozygotes) at a frequency of 0.0856811, which is 6032 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), highly suggesting this variant is a benign polymorphism. The variant has been identified in patients, but not at a significantly higher frequency than in healthy controls (Kane_Cancer Res_2014). Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000432835 SCV000806853 benign not specified 2016-10-03 criteria provided, single submitter clinical testing

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