ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3593A>G (p.Lys1198Arg) (rs1589303073)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000991194 SCV001134971 uncertain significance not provided 2019-03-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016). Has not been previously published as pathogenic or benign to our knowledge. In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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