GJB1 variants in gnomAD

Most GJB1 variants found in gnomAD have an unknown or even doubtful association with CMTX1. This is a schematic of a Cx32 molecule, which consists of 4 transmembrane domains, 2 extracellular loops, 1 intracellular loop, as well as intracellular N- and C-termini. The 70 missense variants found in gnomAD are shown in red, yellow, and green as having an established (a patient with this variant was seen by a CMT expert and diagnosed with CMTX1), unknown, and doubtful/no association with CMTX1 (GJB1 variants with allele counts greater than 2 are probably too common to cause CMTX1), respectively. The allele counts (in gnomAD) are shown in parentheses. (Contributed by Dr. Steven Scherer.)