Sugi Variant

Sugi Variant/KRT74

KRT74 — 243 ClinVar variants

All ClinVar germline KRT74 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

3 Pathogenic · 9 Conflicting · 67 Benign · 4 Benign/Likely benign · 36 Likely benign · 124 Uncertain significance

Full KRT74 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 5

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 38

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

All KRT74 variants

Pathogenic 3

  • c.1391-1G>A No assertion criteria autosomal dominant wooly hair
  • p.Asn148Lys No assertion criteria autosomal dominant wooly hair
  • p.Asp482Asn No assertion criteria hypotrichosis 3 ⚠

Conflicting classifications of pathogenicity 9

Benign 67

Benign/Likely benign 4

Likely benign 36

Uncertain significance 124