rs764887792

Description

This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 59 of the RNASEH2C protein (p.Leu59Ile). This variant is present in population databases (rs764887792, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with RNASEH2C-related conditions. ClinVar contains an entry for this variant (Variation ID: 636423). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.