ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1847A>C (p.Asn616Thr) (rs779523101)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658182 SCV000779953 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing The N616T variant in the POLR3A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N616T variant is observed in 3/33578 (0.009%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). The N616T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret N616T as a variant of uncertain significance.

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