Sugi Variant

Sugi Variant/KLKB1

KLKB1 — 155 ClinVar variants

All ClinVar germline KLKB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 5 Conflicting · 36 Benign · 5 Benign/Likely benign · 13 Likely benign · 83 Uncertain significance

Full KLKB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 1

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 66

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

Predictors split 12

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

All KLKB1 variants

Pathogenic 5

  • c.143_221+128del Single submitter inherited prekallikrein deficiency
  • p.Trp399Ter Single submitter inherited prekallikrein deficiency
  • p.Arg113Ter No assertion criteria prekallikrein deficiency
  • p.Gly123Arg No assertion criteria prekallikrein deficiency
  • p.Trp402Ter No assertion criteria prekallikrein deficiency

Pathogenic/Likely pathogenic 2

  • p.Gly420Glu Multiple submitters prekallikrein deficiency
  • p.Trp402fs Multiple submitters KLKB1-related disorder

Likely pathogenic 6

  • p.Gln536Ter Single submitter inherited prekallikrein deficiency
  • p.Glu290fs Single submitter inherited prekallikrein deficiency
  • p.Gly314Ter Single submitter inherited prekallikrein deficiency
  • p.Ile230Asn Single submitter inherited prekallikrein deficiency ⚠
  • p.Ile68fs Single submitter inherited prekallikrein deficiency
  • p.Leu335fs Single submitter KLKB1-related disorder

Conflicting classifications of pathogenicity 5

Benign 36

Benign/Likely benign 5

  • c.489-5T>C Multiple submitters
  • p.Gly173= Multiple submitters inherited prekallikrein deficiency
  • p.Ser143Asn Multiple submitters inherited prekallikrein deficiency
  • p.Thr270Ala Multiple submitters inherited prekallikrein deficiency
  • p.Thr358Ala Multiple submitters inherited prekallikrein deficiency

Likely benign 13

Uncertain significance 83