RPE65 V452G - 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:

RPE65 V452G

(RPE65 Val452Gly)


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 (3 hits -- see all)
  • Retina International s Scientific Newsletter - RPE65 Mutations
    Mutations of the RPE65 Gene. Phenotype. Mutation. Basechange. Nucleotide ... the translation start site since RPE65 does not contain an untranslated first ...
    www.retina-international.com/sci-news/rpe65mut.htm
  • 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
  • Supplementary Table S1. List of all genetic variants included ...
    V452G. 36 2237. A>G. Y746C. 22. 304. G>T. E102X. 75. 1370. C>A. T457N. 37. 2248. G>T. E750X. 23. 304. G>A ... RPE65. 53. 963 T>G. N321K. 24. 17. IVS16-13 G>T. 1 1. 2. T>C. M1T. 54. 989. G>A. C330Y. 25. 2725. A>G ...
    www.iovs.org/cgi/data/46/9/3052/DC1/1

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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