Sugi Variant

Sugi Variant/VSX1

VSX1 — 175 ClinVar variants

All ClinVar germline VSX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

5 Conflicting · 21 Benign · 7 Benign/Likely benign · 31 Likely benign · 111 Uncertain significance

Full VSX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 5

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

Predictors lean, ClinVar uncertain 71

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 VSX1 variants

Conflicting classifications of pathogenicity 5

Benign 21

  • c.627+23G>A Multiple submitters keratoconus 1
  • c.-197G>A Multiple submitters posterior polymorphous corneal dystrophy
  • c.*104C>T Multiple submitters posterior polymorphous corneal dystrophy
  • c.*200G>T Multiple submitters posterior polymorphous corneal dystrophy
  • c.*496A>G Multiple submitters posterior polymorphous corneal dystrophy
  • p.Ala182= Multiple submitters posterior polymorphous corneal dystrophy
  • p.Arg131Ser Multiple submitters posterior polymorphous corneal dystrophy
  • p.Asp105Glu Multiple submitters posterior polymorphous corneal dystrophy
  • p.Gly113= Multiple submitters posterior polymorphous corneal dystrophy
  • p.Gly20= Multiple submitters posterior polymorphous corneal dystrophy
  • p.Leu176= Multiple submitters posterior polymorphous corneal dystrophy
  • p.Pro58= Multiple submitters posterior polymorphous corneal dystrophy
  • c.628-13T>C Single submitter posterior polymorphous corneal dystrophy
  • c.809-7_809-6dup Single submitter
  • c.*199G>A Single submitter posterior polymorphous corneal dystrophy
  • c.*744C>A Single submitter posterior polymorphous corneal dystrophy
  • c.*745G>A Single submitter posterior polymorphous corneal dystrophy
  • p.Ala41= Single submitter
  • p.Arg166Gln Single submitter posterior polymorphous corneal dystrophy
  • p.Leu17Val Single submitter
  • p.Val138Ile Single submitter craniofacial anomalies and anterior segment dysgenesis syndrome

Benign/Likely benign 7

  • c.628-4C>T Multiple submitters posterior polymorphous corneal dystrophy
  • p.Arg27= Multiple submitters Inborn genetic diseases
  • p.Asp144Glu Multiple submitters posterior polymorphous corneal dystrophy
  • p.Gly160Val Multiple submitters posterior polymorphous corneal dystrophy
  • p.Gly239= Multiple submitters posterior polymorphous corneal dystrophy
  • p.Pro204= Multiple submitters posterior polymorphous corneal dystrophy
  • p.Ser6= Multiple submitters posterior polymorphous corneal dystrophy

Likely benign 31

Uncertain significance 111