rs779523101

Description

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.