CINCA syndrome: genes and variants
Explore variant evidence for CINCA syndrome across 1 analyzed protein (NLRP3). Linked ClinVar records include 5 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to CINCA syndrome
NLRP3: NACHT, LRR and PYD domains-containing protein 3
It assembles a widely used inflammasome in response to diverse danger signals, driving caspase-1 activation and release of IL-1beta and IL-18. Gain-of-function variants cause cryopyrin-associated periodic syndromes, while excessive activation contributes to common inflammatory diseases.
5 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in NLRP3 have source records linked to CINCA syndrome. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): TLR3.
Where CINCA syndrome variants cluster
- NLRP3 NACHT (positions 220–536): 3 of 5 ClinVar pathogenic / likely pathogenic variants, 2.0× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to CINCA syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NLRP3 T350M | 350 | NACHT | Pathogenic / likely pathogenic (★★) |
| NLRP3 L355P | 355 | NACHT | Pathogenic / likely pathogenic (★★) |
| NLRP3 Y861C | 861 | LRR 5 | Pathogenic / likely pathogenic (★★) |
| NLRP3 F311S | 311 | NACHT | Pathogenic / likely pathogenic |
| NLRP3 F575S | 575 | Pathogenic / likely pathogenic |
Same protein, different disease
- Cryopyrin associated periodic syndrome also has ClinVar records linked to NLRP3 variants; they fall mostly in different places as the CINCA syndrome variants (15 pathogenic / likely pathogenic).
- Autoinflammatory syndrome also has ClinVar records linked to NLRP3 variants; they fall mostly in different places as the CINCA syndrome variants (7 pathogenic / likely pathogenic).
Diseases related to CINCA syndrome
- Autosomal dominant nonsyndromic hearing loss, also linked to NLRP3
- Cryopyrin associated periodic syndrome, also linked to NLRP3
- Autoinflammatory syndrome, also linked to NLRP3
- Familial cold autoinflammatory syndrome 3, also linked to NLRP3
Frequently asked questions
Which genes have records linked to CINCA syndrome?
This view contains 1 analyzed proteins: NLRP3. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 5 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 23 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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