PRNP D178N - GET-Evidence

Curation:
Currentness:

PRNP D178N

(PRNP Asp178Asn)


Short summary

Reported by ClinVar to cause Fatal familial insomnia and Jakob-Creutzfeldt disease (http://www.ncbi.nlm.nih.gov/clinvar/variation/13399/). In ClinVar, it is reported as ““pathogenic”“ by OMIM. OMIM’s submission refers to 13 publications related to this variant: https://www.ncbi.nlm.nih.gov/pubmed/1671983,1684756,1353341,1439789,1469441,1671440,9751723,7709737,1353342,19038218,12205650,16227536,1353344

Various publications report the variant in unrelated families. In addition, Goldfarb et al 1992 (https://www.ncbi.nlm.nih.gov/pubmed/1353341) reports that the position neighboring this genetic variant affects the presentation of disease; they report that Val129 is associated with FFI, while Met129 is associated with hereditary JCD.

Variant evidence
Computational -
Functional -
Case/Control 5
Familial 5
 
Clinical importance
Severity 4
Treatability 2
Penetrance 5
 

Impact

High clinical importance, pathogenic

(The "high clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the PRNP gene
    Familial Creutzfeldt-Jakob Disease
    Fatal Familial Insomnia
    Genetic Prion Diseases
    Gerstmann-Straussler-Scheinker Disease
    Huntington Disease-Like 1
    5-Oxoprolinuria
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRNP

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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