GJB6 V37E - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

GJB6 V37E

(GJB6 Val37Glu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the GJB6 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA 3 Nonsyndromic Hearing Loss and Deafness
    DFNB 1 Nonsyndromic Hearing Loss and Deafness
    GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness
    GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness
    Ichthyosis, Hystrix-like, with Deafness
    Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
    Vohwinkel Syndrome
    GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness
    GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness
    Hidrotic Ectodermal Dysplasia 2
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJB6
    PolyPhen-2
  • Score: 0.989 (probably damaging)
    Web search results (32 hits -- see all)
  • Journal of Investigative Dermatology - Genetic Heterogeneity ...
    Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence ... The identified mutation V37E in GJB6 was recently observed in a ...
    www.nature.com/jid/journal/v122/n5/full/5602313a.html
  • Journal of Investigative Dermatology - A Novel Connexin 30 ...
    Recently, mutations in the GJB6 gene encoding the gap junction ... Here we report a novel missense mutation V37E in the GJB6 gene encoding connexin 30 in a sporadic Scottish ...
    www.nature.com/jid/journal/v118/n3/full/5601428a.html
  • Genetic heterogeneity of KID syndrome: identification of a ...
    Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane ...
    www.ncbi.nlm.nih.gov/pubmed/15140211
  • DAVID: Database for Annotation, Visualization, and Integrated ...
    disease:Defects in GJB6 are a cause of non-syndromic sensorineural deafness autosomal ... disease:Defects in GJB6 are the cause of hidrotic ectodermal ...
    david.abcc.ncifcrf.gov/geneReportFull.jsp?rowids=2860019
  • FHA - A novel connexin 30 mutation in Clouston syndrome ...
    ... hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding... Here, we report a novel mutation V37E within the first transmembrane domain of connexin ...
    find-health-articles.com/rec_pub_11874494-a-novel-connexi...
  • A novel connexin 30 mutation in Clouston syndrome.
    Recently, mutations in the GJB6 gene encoding the gap junction ... Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous ...
    www.ncbi.nlm.nih.gov/pubmed/11874494
  • Connexin30 (Gjb6)-deficiency causes severe hearing impairment ...
    Moreover, the GJB6 mutations G11R and A88V are involved in hidrotic ectodermal dysplasia (21) and the V37E mutation of GJB6 underlies Clouston syndrome (22) ...
    hmg.oxfordjournals.org/cgi/content/full/12/1/13
  • The Molecular Genetics Laboratory
    Mutations in the GJB6 gene are responsible for Hidrotic Ectodermal Dysplasia (HED, ... Three mutations (G11R, V37E and A88V) of the connexin 30 gene (GJB6) have been reported, ...
    www.moleculargenetics.mcgill.ca/?Topic=TestsAvailable
  • GJB6
    ETHNICITY (Number of families) REFERENCES. GJB6. DFNA3. T5M. C>T. Italian ... V37E. 110T>A. Scottish (1) Smith 2002. A88V. 263C>T. Indian (1), Malaysian (1), Welsh (1) ...
    hearing.harvard.edu/genepages/gjb6dream.htm
  • Test Information Sheet
    to screen the GJB6 gene is expected to identify more than 95% of ... A third mutation, V37E, has been associated with 2 disorders with overlapping ...
    www.genedx.com/pdf_files/info_sheet_cs.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in