SCN9A I62V - GET-Evidence

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Currentness:

SCN9A I62V

(SCN9A Ile62Val)


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Short summary

Reported by ClinVar to cause familial febrile seizures (https://www.ncbi.nlm.nih.gov/clinvar/variation/6368/). 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 (https://www.ncbi.nlm.nih.gov/pubmed/19763161), 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 (http://exac.broadinstitute.org/variant/2-167168083-T-C). 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

Familial

No familial data

 
Clinical importance
Severity 3
Treatability 1
Penetrance 4
 

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 external references
 

    GeneTests
  • GeneTests records for the SCN9A gene
    Congenital Indifference to Pain, Autosomal Recessive
    Paroxysmal Extreme Pain Disorder
    SCN9A-Related Inherited Erythromelalgia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN9A
    PolyPhen-2
  • 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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