RPE65 R515W - GET-Evidence

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

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Curation:
Currentness:

RPE65 R515W

(RPE65 Arg515Trp)


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 RPE65 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Recessive
    RPE65-Related Leber Congenital Amaurosis
    RPE65-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPE65
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (9 hits -- see all)
  • A Homozygosity-Based Search for Mutations in Patients with ...
    The other was a mutation in RPE65 (c.1543CT, R515W), which is known to cause Leber's congenital amaurosis. ... An RPE65 Mutation Known to Cause Leber's Congenital Amaurosis ...
    www.iovs.org/cgi/content/full/45/12/4433
  • A homozygosity-based search for mutations in patients with ...
    The other was a mutation in RPE65 (c.1543C-->T, R515W), which is known to cause Leber's congenital amaurosis. The clinical features of each patient, ...
    www.ncbi.nlm.nih.gov/pubmed/15557452
  • A Homozygosity-Based Search for Mutations in Patients with ...
    © 2004 by The Association for Research in Vision and Ophthalmology, Inc. ... The other was a mutation in RPE65 (c.1543CT, R515W), which is known to cause Leber's ...
    www.iovs.org/cgi/content/abstract/45/12/4433
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/t18_note4.html
  • PubMed: 15557452
    METHODS: A total of 78 microsatellite markers corresponding to 16 genes known to be ... The other was a mutation in RPE65 (c.1543C-->T, R515W), which is known to cause Leber's ...
    www.genome.jp/dbget-bin/www_bget?pubmed+15557452
  • A homozygosity-based search for mutations in patients with ...
    Department of Ophthalmology, Fukuoka University School of Medicine, 7-45-1 Nanakuma, ... The other was a mutation in RPE65 (c.1543C-->T, R515W), which is known to cause Leber's ...
    www.medscape.com/medline/abstract/15557452?prt=true
  • Qin, M (Minghui)
    Qin, M (Minghui) :: A homozygosity-based search for mutations in patients with ... The other was a mutation in RPE65 (c.1543C-->T, R515W), which is known to cause Leber's ...
    lib.bioinfo.pl/auid:4162986

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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