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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 AmrHeidi L RehmAhmad N Abou Tayounnull null
Published 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.
Keyphrases
  • hearing loss
  • clinical practice
  • deep learning
  • machine learning
  • copy number
  • tyrosine kinase
  • big data
  • electronic health record
  • intellectual disability
  • gene expression
  • autism spectrum disorder
  • genome wide