ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2125G>C (p.Glu709Gln)

dbSNP: rs1367402208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768859 SCV001993613 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002421254 SCV002729953 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter clinical testing The p.E709Q variant (also known as c.2125G>C), located in coding exon 19 of the POLE gene, results from a G to C substitution at nucleotide position 2125. The glutamic acid at codon 709 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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