NLRP12 F402L - GET-Evidence

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

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NLRP12 F402L

(NLRP12 Phe402Leu)

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

  • G @ chr19:54313709: 0.0% (2/10758) in EVS
  • C @ chr19:59005518: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (2/10758)


Vitale A, Rigante D, Maggio MC, Emmi G, Romano M, Silvestri E, Lucherini OM, Emmi L, Gerloni V, Cantarini L. Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series. Clin Exp Rheumatol. 2013 May-Jun;31(3 Suppl 77):155-6. Epub 2013 Sep 9. PubMed PMID: 24064030.


De Pieri C, Vuch J, Athanasakis E, Severini GM, Crovella S, Bianco AM, Tommasini A. F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls. Clin Exp Rheumatol. 2014 Nov-Dec;32(6):993-4. Epub 2014 Oct 20. PubMed PMID: 25327218.


Vitale A, Rigante D, Lucherini OM, Caso F, Cantarini L. The role of the F402L allele in the NLRP12-autoinflammatory disorder. Reply to: F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls, De Pieri et al. Clin Exp Rheumatol. 2014 Nov-Dec;32(6):994. Epub 2014 Oct 20. PubMed PMID: 25327451.



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr19:54313707


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr19:54313707



huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr19:54313707


Other external references

  • rs34971363
  • Score: 0.996 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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