RPE65 L341S - GET-Evidence

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

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RPE65 L341S

(RPE65 Leu341Ser)

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: 0.999 (probably damaging)
    Web search results (7 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 ...
  • human gene therapy success mutations: Prerequisite for RPE65 ...
    Mutations in RPE65, a gene essential to normal operation of the ... L341S L341S. This study. P4. 19. Female. R44Q R91W. 48. P5. 20. Female. L343X. This study. P6. 21. Male ...
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
  • BioPortfolio - xeroderm pigmentosa mycobacteria
    xeroderm pigmentosa mycobacteria - BioPortfolio ... RPE65, L341S, C, N/C_N, Retinitis pigmentosa ... http://www.biomedcentral.com/content/supplementary/1471-2164...
  • Articles
    Age-dependent effects of RPE65 gene therapy for Leber's. congenital amaurosis: a phase 1 ... and visual function in 12 patients (aged 8–44 years) with RPE65-associated Leber's ...
  • Supplementary Table S1. List of all genetic variants included ...
    IVS2-2 A>G. splice. 37. 2714 G>A. R905Q. 20. 571delT. Y191fs. 12. 286 G>A. V96I. 38. IVS8+5 G>A ... L341S. 26. 2759_2760insT. Q920fs. 3 2 57_58del. E20fs. 56 1047_1048insTGG. N349_W350insW. 27 18 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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