rs749473518

Description

Variant summary: RNASEH2C c.495A>G (p.X165Trp) changes the termination codon and is predicted to lead to an extended protein with 135 amino acids added to the normal C-terminus. The variant allele was found at a frequency of 1.4e-05 in 143290 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.495A>G in individuals affected with Aicardi Goutieres syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.