Sugi Variant

Sugi Variant/COL25A1

COL25A1 — 144 ClinVar variants

All ClinVar germline COL25A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

5 Pathogenic · 6 Likely pathogenic · 8 Benign · 1 Benign/Likely benign · 33 Likely benign · 91 Uncertain significance

Full COL25A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 78

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 lean, ClinVar uncertain 53

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

Predictors split 25

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

All COL25A1 variants

Pathogenic 5

  • p.Pro533fs Single submitter fibrosis of extraocular muscles, congenital, 5
  • p.Ser307Ter Single submitter
  • c.368-5122_708+6063del No assertion criteria fibrosis of extraocular muscles, congenital, 5
  • p.Gly382Arg No assertion criteria fibrosis of extraocular muscles, congenital, 5
  • p.Gly497Ter No assertion criteria fibrosis of extraocular muscles, congenital, 5

Likely pathogenic 6

  • p.Arg128Ter Multiple submitters arthrogryposis
  • c.672+1del Single submitter fibrosis of extraocular muscles, congenital, 5
  • c.672+1G>A Single submitter fibrosis of extraocular muscles, congenital, 5
  • c.780+1G>A Single submitter fibrosis of extraocular muscles, congenital, 5
  • p.Gly279Ala Single submitter arthrogryposis multiplex congenita
  • p.Gly400Arg Single submitter fibrosis of extraocular muscles, congenital, 5

Benign 8

Benign/Likely benign 1

Likely benign 33

Uncertain significance 91