ClinVar Miner

Submissions for variant NM_000937.5(POLR2A):c.3865G>A (p.Glu1289Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004729618 SCV005331966 pathogenic not provided 2023-11-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35689525)

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