RELN P672L - GET-Evidence

Curation:
Currentness:

RELN P672L

(RELN Pro672Leu)


Short summary

Reported by ClinVar to cause familial temporal lobe epilepsy (https://www.ncbi.nlm.nih.gov/clinvar/variation/208481/). In ClinVar this variant is reported as “pathogenic” (causing this condition) by a single source, GeneReviews, which cites their article written by Ruth Ottman: https://www.ncbi.nlm.nih.gov/books/NBK1537/

This variant is somewhat rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/7-103281044-G-A).

Variant evidence
Computational -
Functional -
Case/Control

Evidence unknown.

Familial

Evidence unknown.

 
Clinical importance
Severity 3
Treatability 3
Penetrance 5
 

Impact

Moderate clinical importance, Uncertain pathogenic

(The "moderate clinical importance, uncertain" 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 in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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