rs373365980

Description

This variant is denoted TSC2 c.5252G>A at the cDNA level, p.Arg1751His (R1751H) at the protein level, and results in the change of an Arginine to a Histidine (CGC>CAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TSC2 Arg1751His was observed at an allele frequency of 0.01% (1/10,068 alleles) in large population cohorts (Lek 2016). This variant is located in the Rap-GAP domain (UniProt). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether TSC2 Arg1751His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.