SCN9A V1299F - GET-Evidence

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

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SCN9A V1299F

(SCN9A Val1299Phe)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • 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
    Web search results (13 hits -- see all)
  • Clinical Study
    of a distinct repertoire of SCN9A mutations in PEPD, to- gether with detailed functional ... V1298D (proband only, family 12); brown, V1299F (family 11); red, I1461T (family 1) ...
  • Paroxysmal extreme pain disorder - Wikipedia, the free ...
    ... mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. ... in this region (V1298F, F1298D and V1299F) that are believed to alter the ...
  • Paroxysmal extreme pain disorder: Encyclopedia of chemistry ...
    Paroxysmal extreme pain disorder. Encyclopedia of chemistry, analytics & pharmaceutics with 64,557 entries.
  • IUPHAR DATABASE | Voltage-Gated Sodium Channels | Na<sub>v ...
    Scn9a. 189-190. Mouse. 24. 1. 1975. NP_061340. 2 C1.3. Scn9a. 191-192. Ion Selectivity and ... V1299F. 205. Missense. Human. V1298F. 205. Missense. Human. V1298D. 205 ...
  • NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E ...
    ... and direct sequencing of all exons of SCN9A identified a heterozygous 4895C > A ... (2006) SCN9A mutations in paroxysmal extreme pain disorder: allelic variants ...
  • Supplemental Data SCN9A Mutations in Paroxysmal Extreme Pain ...
    Additional families without mutations in SCN9A. In addition to the largest pedigree, ... (E) V1299F. Sequence from individual IV:7, family 11, heterozygous for ...
  • pepd-ion channel citations
    Ion channel articles relating to 'pepd' ... We functionally characterized two of the D3/S4-S5 PEPD mutations (V1298F and V1299F) and compared their effects on ...
  • Paroxysmal extreme pain disorder
    Paroxysmal extreme pain disorder (PEPD), originally named familial rectal pain ... gene SCN9A aids in appropriate diagnosis as this gene is mutated in 8 ...
  • Paroxysmal extreme pain disorder - wikidoc
    ... mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. ... in this region (V1298F, F1298D and V1299F) that are believed to alter the ...
  • A Nav1.7 Channel Mutation Associated with Hereditary ...
    BioInfoBank Library :: A Nav1.7 Channel Mutation Associated with Hereditary Erythromelalgia Contributes to Neuronal Hyperexcitability and Displays Reduced Lidocaine ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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