Table 2.

Cx26, Cx32, C43, and Cx50 mutants at positions homologous to Cx47 G40 and R244 recorded in ClinVar with their corresponding annotations for pathogenicity

GeneProteinVariantAnalogous Cx47 positionPathogenicity statusClinVar annotation
GJB2 Cx26 A40T 40 Likely pathogenic Not provided 
GJB2 Cx26 A40E 40 Likely pathogenic Rare genetic deafness 
GJB2 Cx26 A40G 40 Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A 
GJB1 Cx32 A40S 40 Likely pathogenic Charcot–Marie–Tooth neuropathy X 
GJB1 Cx32 A40T 40 Uncertain significance Not provided 
GJB1 Cx32 A40V 40 Pathogenic CMT1X 
GJA8 Cx50 A41V 40 Uncertain significance Cataract 1 multiple types 
GJB2 Cx26 A171T 244 Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A 
GJB2 Cx26 A171fs 244 Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A 
GJB2 Cx26 A171V 244 Uncertain significance Not specified 
GJB1 Cx32 V170I 244 Uncertain significance Charcot–Marie–Tooth neuropathy X-linked dominant 1 
GJB1 Cx32 V170F 244 Uncertain significance Charcot–Marie–Tooth neuropathy X 
GJB1 Cx32 V170G 244 Uncertain significance Charcot–Marie–Tooth neuropathy X 
GJB1 Cx32 V170D 244 Uncertain significance Charcot–Marie–Tooth disease 
GJA1 Cx43 R189fs 244 Uncertain Oculodentodigital dysplasia 
GJA8 Cx50 R185W 244 Uncertain Not provided 
GJA8 Cx50 R185Q 244 Uncertain Inborn genetic diseases 
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