GBA L483P - GET-Evidence

Curation:
Currentness:

GBA L483P

(GBA Leu483Pro)


Short summary

Causes Gaucher’s disease, a recessive disorder whose symptoms include anemia, bruising, bone lesions, and spleen and liver issues. Reported to ClinVar by OMIM and Emory Genetics Laboratory (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004509/), numerous publications cite this variant as causing the disease.

Variant evidence
Computational 2

Other variants in this gene cause this disease

Functional -
Case/Control 5

well-established

Familial -
 
Clinical importance
Severity 4
Treatability 3
Penetrance 5
 

Impact

High clinical importance, Likely pathogenic

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

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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