Sugi Variant

Sugi Variant/MIP

MIP — 123 ClinVar variants

All ClinVar germline MIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →

14 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 1 Conflicting · 19 Benign · 4 Benign/Likely benign · 10 Likely benign · 62 Uncertain significance

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

⚑ Evidence disagreements 45

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 lean, ClinVar uncertain 39

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

Predictors split 4

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

All MIP variants

Pathogenic 14

  • p.Trp205Ter Multiple submitters cataract 15 multiple types
  • c.606+1G>T Single submitter cataract 15 multiple types
  • p.Arg233Lys Single submitter ⚠
  • p.Leu55fs Single submitter cataract 15 multiple types
  • p.Pro208fs Single submitter cataract 15 multiple types
  • p.Trp202Ter Single submitter MIP-related disorder
  • p.Tyr177fs Single submitter cataract 15 multiple types
  • p.Tyr219Ter Single submitter MIP-related disorder
  • p.Val206fs Single submitter cataract 15 multiple types
  • p.Asn200fs No assertion criteria Developmental cataract
  • p.Glu134Gly No assertion criteria cataract 15 multiple types
  • p.Gly211Ter No assertion criteria Developmental cataract
  • p.Leu170fs No assertion criteria cataract 15 multiple types
  • p.Thr138Arg No assertion criteria cataract 15 multiple types

Pathogenic/Likely pathogenic 3

  • c.606+1G>C Multiple submitters MIP-related disorder
  • p.Arg33Cys Multiple submitters cataract 15 multiple types ⚠
  • p.Gly213fs Multiple submitters Inborn genetic diseases

Likely pathogenic 10

Conflicting classifications of pathogenicity 1

  • c.606+1G>A Single submitter Inborn genetic diseases

Benign 19

Benign/Likely benign 4

  • c.-10C>A Multiple submitters cataract 15 multiple types
  • p.His172= Multiple submitters cataract 15 multiple types
  • p.Ser126= Multiple submitters cataract 15 multiple types
  • p.Val107Ile Multiple submitters cataract 15 multiple types

Likely benign 10

Uncertain significance 62