Sugi Variant

Sugi Variant/GRHL2

GRHL2 — 339 ClinVar variants

All ClinVar germline GRHL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →

12 Pathogenic · 4 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 9 Conflicting · 43 Benign · 11 Benign/Likely benign · 102 Likely benign · 146 Uncertain significance

Full GRHL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 136

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 agree, ClinVar conflicts 3

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 112

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

Predictors split 20

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

All GRHL2 variants

Pathogenic 12

  • p.Arg75Ter Multiple submitters autosomal dominant nonsyndromic hearing loss 28
  • c.284+2039_678+217del Single submitter autosomal dominant nonsyndromic hearing loss 28
  • p.Ala254fs Single submitter GRHL2-related disorder
  • p.Arg537Ter Single submitter
  • p.Asn309fs Single submitter
  • p.Asp206fs Single submitter autosomal dominant nonsyndromic hearing loss 28
  • p.Gln138Ter Single submitter
  • p.Tyr316fs Single submitter
  • p.Tyr337Ter Single submitter
  • c.1258-1G>A No assertion criteria autosomal dominant nonsyndromic hearing loss 28
  • p.Arg537fs No assertion criteria autosomal dominant nonsyndromic hearing loss 28
  • p.Ile482Lys No assertion criteria nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Pathogenic/Likely pathogenic 4

Likely pathogenic 12

  • c.1004-2A>C Single submitter GRHL2-related disorder
  • c.1098+1G>A Single submitter
  • c.1099-1G>A Single submitter autosomal dominant nonsyndromic hearing loss 28
  • c.1518-2del Single submitter
  • c.1698+1G>A Single submitter autosomal dominant nonsyndromic hearing loss 28
  • c.21-1G>A Single submitter GRHL2-related disorder
  • p.Gln104Ter Single submitter autosomal dominant nonsyndromic hearing loss 28
  • p.Gln440Ter Single submitter autosomal dominant nonsyndromic hearing loss 28
  • p.Glu422Ter Single submitter
  • p.Met267fs Single submitter
  • p.Tyr398His Single submitter nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ⚠
  • c.20+257del No assertion criteria corneal dystrophy

Conflicting classifications of pathogenicity 9

Benign 43

Benign/Likely benign 11

Likely benign 102

Uncertain significance 146