SCN1A E1297D - GET-Evidence

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

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SCN1A E1297D

(SCN1A Glu1297Asp)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • A @ chr2:166866307: 0.1% (7/10758) in EVS
  • A @ chr2:166574552: 0.8% (1/124) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (7/10758)



GS10851 - var-GS10851-1100-36-ASM
het A @ chr2:166574553


Other external references

  • GeneTests records for the SCN1A gene
    Familial Hemiplegic Migraine
    Familial Hemiplegic Migraine 3
    SCN1A-Related Intractable Infantile Partial Seizures
    SCN1A-Related Seizure Disorders

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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