ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3272A>G (p.Glu1091Gly)

gnomAD frequency: 0.00001  dbSNP: rs1409558568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756537 SCV001985415 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observedin large population cohorts (Lek 2016)

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