Sugi Variant

Sugi Variant/NLRP1

NLRP1 — 1204 ClinVar variants

All ClinVar germline NLRP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 625 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 30 Conflicting · 13 Benign · 56 Benign/Likely benign · 385 Likely benign · 714 Uncertain significance

Full NLRP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 625

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 23

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 521

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 521

Predictors split 79

The independent predictors disagree with each other — read with care.

All NLRP1 variants

Pathogenic 4

  • p.Ala54Thr Single submitter corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ⚠
  • c.2358-?_2528+?del No assertion criteria corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
  • p.Met77Thr No assertion criteria corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ⚠
  • p.Thr755Asn No assertion criteria respiratory papillomatosis, juvenile recurrent, congenital ⚠

Pathogenic/Likely pathogenic 1

  • p.Pro1214Arg Multiple submitters autoinflammation with arthritis and dyskeratosis ⚠

Likely pathogenic 1

  • p.Ala66Val Single submitter corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ⚠

Conflicting classifications of pathogenicity 30

Benign 13

Benign/Likely benign 56

Likely benign 385

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 714

Showing the top 300 by review status; the full set is in the sitemap.