Sugi Variant

Sugi Variant/TLR8

TLR8 — 95 ClinVar variants

All ClinVar germline TLR8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

4 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 9 Benign · 11 Likely benign · 67 Uncertain significance

Full TLR8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 3

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 57

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

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

All TLR8 variants

Pathogenic 4

  • p.Gly572Val Single submitter autoimmune hemolytic anemia
  • p.Gly572Asp No assertion criteria immunodeficiency 98 with autoinflammation, X-linked ⚠
  • p.Leu433Phe No assertion criteria immunodeficiency 98 with autoinflammation, X-linked ⚠
  • p.Phe494Leu No assertion criteria INFLTR8 ⚠

Likely pathogenic 2

  • p.Glu133fs Single submitter immunodeficiency 98 with autoinflammation, X-linked
  • p.Phe494Tyr Single submitter immunodeficiency 98 with autoinflammation, X-linked ⚠

Conflicting classifications of pathogenicity 2

Benign 9

Likely benign 11

Uncertain significance 67