SCN9A I62V - GET-Evidence



(SCN9A Ile62Val)

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Edited in this revision:

Short summary

Reported by ClinVar to cause familial febrile seizures ( In ClinVar this variant is reported as “pathogenic” by OMIM. However, it is classified as “uncertain significance” by GeneDx. OMIM’s submission refers to Singh et al 2009 (, where this variant was observed in one of 92 patients with childhood febrile seizures.

This patient was Hispanic/Latino; according to ExAC data, this variant is rare in all ancestries tested (less than 1 in 1,000 carry it) including Latino ( The statistical significance of Singh et al’s observation is unclear, and may weak or absent.

Variant evidence
Computational -
Functional -
Case/Control 2

Statistical significance unclear


No familial data

Clinical importance
Severity 3
Treatability 1
Penetrance 4


Moderate clinical importance, Uncertain pathogenic

(The "moderate clinical importance, uncertain" 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 SCN9A gene
    Congenital Indifference to Pain, Autosomal Recessive
    Paroxysmal Extreme Pain Disorder
    SCN9A-Related Inherited Erythromelalgia
  • Score: 0.92 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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