Sugi Variant

Sugi Variant/SASH1

SASH1 — 375 ClinVar variants

All ClinVar germline SASH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 217 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 6 Conflicting · 46 Benign · 6 Benign/Likely benign · 81 Likely benign · 222 Uncertain significance

Full SASH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 217

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 2

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 172

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 172

Predictors split 37

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

All SASH1 variants

Pathogenic 1

  • p.Leu511fs No assertion criteria dyschromatosis universalis hereditaria 1

Pathogenic/Likely pathogenic 1

Likely pathogenic 12

  • p.Arg644Trp Single submitter dyschromatosis universalis hereditaria 1
  • p.Glu509Lys Single submitter dyschromatosis universalis hereditaria 1
  • p.Leu515Pro Single submitter dyschromatosis universalis hereditaria 1
  • p.Ser507Ala Single submitter dyschromatosis universalis hereditaria 1 ⚠
  • p.Ser516Arg Single submitter dyschromatosis universalis hereditaria 1
  • p.Ser519Asn Single submitter dyschromatosis universalis hereditaria 1
  • p.Ser522Arg Single submitter SASH1-related disorder
  • p.Ser531Cys Single submitter
  • p.Thr525Ile Single submitter dyschromatosis universalis hereditaria 1 ⚠
  • p.Thr604Lys Single submitter dyschromatosis universalis hereditaria 1
  • p.Tyr551Asp Single submitter dyschromatosis universalis hereditaria 1
  • p.Tyr551His Single submitter dyschromatosis universalis hereditaria 1

Conflicting classifications of pathogenicity 6

Benign 46

Benign/Likely benign 6

Likely benign 81

Uncertain significance 222