Table 4.

Notable GJB1 Pathogenic Variants

Reference
Sequences		DNA
Nucleotide
Change (Alias 1)		Predicted
Protein
Change		Comment [Reference]
NM_000166​.5 c.-103C>T
(-459C>T)		--Recurrent pathogenic variant in noncoding exon (1B) [Ionasescu et al 1996b, Li et al 2009, Tsai et al 2013, Tomaselli et al 2017]
c.-17G>A--Most common noncoding pathogenic variant in a large international study (4% of total) at splice site [Panosyan et al 2017]; phenotype is more severe than the phenotypes assoc w/a number of single-nucleotide variants [Record et al 2023].
NM_000166​.5
NP_000157​.1 		c.44G>Ap.Arg15GlnMost common coding pathogenic variant ~7% of total in a large international study [Panosyan et al 2017]
c.65G>Ap.Arg22GlnObserved in 2 unrelated cases w/stroke-like episodes [Srinivasan et al 2008, Rosser et al 2010]
c.223C>Tp.Arg75TrpObserved in 3 unrelated cases w/stroke-like episodes [Taylor et al 2003; Parissis et al 2017; SS Scherer, personal communication]
c.283G>Ap.Val95MetApparently common pathogenic variant in Korea (6/63 families) [Hong et al 2017]
c.415G>Ap.Val139Met2 unrelated cases w/stroke like episodes [Halbrich et al 2008, Al-Mateen et al 2014]
c.424C>Tp.Arg142TrpObserved in 3 unrelated cases w/stroke-like episodes [Paulson et al 2002; SS Scherer, personal communication]
c.425G>Ap.Arg142GlnObserved in 2 unrelated cases w/stroke-like episodes [Kulkarni et al 2015, Lu et al 2017]
c.490C>Tp.Arg164TrpObserved in 2 unrelated cases w/stroke-like episodes [Schelhaas et al 2002, Isoardo et al 2005]; common pathogenic variant in Korea (4/63 families) [Hong et al 2017]
c.491G>Ap.Arg164GlnApparently common pathogenic variant in Korea (5/63 families) [Hong et al 2017]

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

From: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes

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