Sugi Variant

Sugi Variant/GRHL3

GRHL3 — 254 ClinVar variants

All ClinVar germline GRHL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 9 Conflicting · 53 Benign · 7 Benign/Likely benign · 44 Likely benign · 119 Uncertain significance

Full GRHL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 87

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

Predictors split 23

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

All GRHL3 variants

Pathogenic 12

  • c.1047+1G>A Single submitter Inborn genetic diseases
  • c.1285+2del Single submitter isolated cleft palate
  • c.1419+1G>A Single submitter van der Woude syndrome 2
  • c.840+1G>T Single submitter isolated cleft palate
  • p.Arg306fs Single submitter isolated cleft palate
  • p.Gln312Ter Single submitter Inborn genetic diseases
  • p.Trp300Ter Single submitter van der Woude syndrome 2
  • c.1419+1G>T No assertion criteria van der Woude syndrome 2
  • p.Arg298His No assertion criteria van der Woude syndrome 2 ⚠
  • p.Arg391His No assertion criteria isolated cleft palate
  • p.Glu522fs No assertion criteria van der Woude syndrome 2
  • p.Phe324fs No assertion criteria van der Woude syndrome 2

Pathogenic/Likely pathogenic 1

  • p.Arg391Cys Multiple submitters van der Woude syndrome 2

Likely pathogenic 9

Conflicting classifications of pathogenicity 9

Benign 53

Benign/Likely benign 7

  • c.204+13C>G Multiple submitters van der Woude syndrome 2
  • p.Arg573His Multiple submitters van der Woude syndrome 2
  • p.Asp169= Multiple submitters van der Woude syndrome 2
  • p.His184= Multiple submitters van der Woude syndrome 2
  • p.Pro202= Multiple submitters van der Woude syndrome 2
  • p.Pro455Ala Multiple submitters van der Woude syndrome 2
  • p.Thr454Met Multiple submitters van der Woude syndrome 2

Likely benign 44

Uncertain significance 119