GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
GJB3 G12Rinsufficiently evaluated pathogenicunknown

(53 web hits)

GJB3 G12Dinsufficiently evaluated pathogenicunknown

(91 web hits)

GJB3 R32Wuncertain benign, f=0.022unknown

Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type.

PGP13 (hu3A8D13) build 37, from CGI var (software ver
GJB3 L34Pinsufficiently evaluated pathogenicunknown

(22 web hits)

GJB3 R42Pinsufficiently evaluated pathogenicunknown

(72 web hits)

GJB3 C86Sinsufficiently evaluated pathogenicunknown

(35 web hits)

GJB3 I141Vinsufficiently evaluated pathogenicunknown

(23 web hits)

GJB3 N166Sinsufficiently evaluated pathogenicunknown

(18 web hits)

GJB3 Y177Dinsufficiently evaluated none, f=0.006unknown

(4 web hits)

GJB3 R180Xinsufficiently evaluated pathogenicunknown

(23 web hits)

GJB3 E183Kinsufficiently evaluated pathogenic, f=0.000unknown

(22 web hits)

GJB3 A194Tuncertain benignundefined

Reported to cause deafness when combined with a pathogenic mutation in another gene (GJB2). This effect is recorded in ClinVar by OMIM ( and is reported by Liu et al 2009 (PMID: 19050930) who found this variant heterozygous in one of 108 Chinese patients already carrying a putatively pathogenic a GJB2 variant. However, in ExAC data this variant has an allele frequency of 0.72% in east asian ancestry. Thus, 1 in 70 are expected to carry it heterozygously in this population; matching Liu et al’s observation in cases. Due to high allele frequency, and lack of enrichment for the variant cases, the proposed effect should be considered disproven.

(20 web hits)

GJB3 V200Iinsufficiently evaluated not reviewed, f=0.031unknown

(8 web hits)

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Total results: 13

Gene search

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