ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1390C>T (p.Arg464Trp)

gnomAD frequency: 0.00001  dbSNP: rs771732436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658181 SCV000779952 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing The R464W variant in the POLR3A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R464W variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R464W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R464W as a variant of uncertain significance.

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