rs1665660680

Description

Variant summary: SOX11 c.235A>C (p.Ile79Leu) results in a conservative amino acid change located in the High mobility group box domain (IPR009071) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251086 control chromosomes (gnomAD). 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.235A>C in individuals affected with Mental retardation, autosomal dominant 27 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.