SCN9A V1298D - GET-Evidence

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

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Curation:
Currentness:

SCN9A V1298D

(SCN9A Val1298Asp)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

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
    Web search results (16 hits -- see all)
  • Clinical Study
    of a distinct repertoire of SCN9A mutations in PEPD, to- gether with detailed functional ... V1298F (family 15); pink, V1298D (proband only, family 12); brown, ...
    www.jefferson.edu/JCGS/phd/neuroscience/documents/Tsart1.pdf
  • Journal of Clinical Investigation -- Mutations in sodium ...
    Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders ... To date, nearly a dozen SCN9A mutations in multiple families have been identified as ...
    www.jci.org/articles/view/33297
  • Mutations in sodium-channel gene SCN9A cause a spectrum of ...
    Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders ... was compound heterozygous for R996C and a de novo mutation (V1298D) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2096434
  • Paroxysmal extreme pain disorder - Wikipedia, the free ...
    ... mutations in the voltage-gated sodium channel NaV1.7 encoded by the gene SCN9A. ... mutation, pedigree 12, has a single individual who also has the V1298D mutation. ...
    en.wikipedia.org/wiki/Paroxysmal_extreme_pain_disorder
  • From genes to pain: Na
    Additionally, other mutations in SCN9A have been. linked to inherited ... nonsense mutation on both alleles of SCN9A (solid magenta), whereas two pairs of ...
    ibmc.umh.es/congresos/.../abstracts/paper.14_08.pdf
  • Paroxysmal extreme pain disorder: Encyclopedia of chemistry ...
    Paroxysmal extreme pain disorder. Encyclopedia of chemistry, analytics & pharmaceutics with 64,557 entries.
    www.chemie.de/lexikon/e/Paroxysmal_extreme_pain_disorder
  • 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 ... V1298D. 205. Missense. Human. R996C. 205. To cite this receptor data page, ...
    iuphar-db.org/DATABASE/...?objectId=584&familyId=82
  • Latest Posts
    фильм с машковым кандагар Вадим Makhneu Джозеф Эдвард Фицджеральд была ... Он якобы был членом группы "Перл советских шпионов. Имя Фицджеральда в проекте Venona ...
    livejournal.com/stats/latest.bml/urn:livejournal.com:entr...
  • Supplemental Data SCN9A Mutations in Paroxysmal Extreme Pain ...
    Additional families without mutations in SCN9A. In addition to the largest pedigree, ... (D) V1298D. Sequence from proband family 12, heterozygous T. A ...
    download.cell.com/neuron/.../PIIS0896627306008051.mmc1.pdf
  • 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 ...
    www.lumrix.net/health/Paroxysmal_extreme_pain_disorder.html

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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