RPE65 V452G - GET-Evidence

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

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RPE65 V452G

(RPE65 Val452Gly)

Short summary


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


Insufficiently evaluated pathogenic

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the RPE65 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Recessive
    RPE65-Related Leber Congenital Amaurosis
    RPE65-Related Retinitis Pigmentosa
  • 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 ...
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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