ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1572+5G>A (rs1440024141)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658107 SCV000779878 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The c.1572+5G>A variant in the POLR3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 11, and is expected to cause abnormal gene splicing. The c.1572+5G>A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1572+5G>A as a variant of uncertain significance.

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