Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Jun ShenAndrea M OzaIgnacio Del CastilloHatice DuzkaleTatsuo MatsunagaArti PandyaHyunseok P KangRebecca Mar-HeymingSaurav GuhaKrista MoyerChristine LoMargaret KennaJohn J AlexanderYan ZhangYoel HirschMinjie LuoYe CaoKwong-Wai ChoyYen-Fu ChengKaren B AvrahamXinhua HuGema GarridoMiguel Angel Moreno-PelayoJohn GreinwaldKejian ZhangYukun ZengZippora BrownsteinLina Basel-SalmonBella DavidovMoshe FrydmanTzvi WeidenNarasimhan NaganAlecia WillisSarah E HemphillAndrew R GrantRebecca K SiegertMarina T DiStefanoSami S AmrMichael J BamshadAhmad N Abou Tayounnull nullPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Resolving controversies in variant classification requires coordinated effort among a panel of international multi-institutional experts to share data, standardize classification guidelines, review evidence, and reach a consensus. We concluded that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance.