Sugi Variant

Sugi Variant/CLRN1

CLRN1 — 423 ClinVar variants

All ClinVar germline CLRN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

30 Pathogenic · 22 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 13 Conflicting · 27 Benign · 130 Likely benign · 162 Uncertain significance

Full CLRN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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 3

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 73

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

Predictors split 42

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

All CLRN1 variants

Pathogenic 30

Pathogenic/Likely pathogenic 22

  • c.254-649T>G Multiple submitters
  • c.433+1G>A Multiple submitters retinitis pigmentosa 61
  • p.Ala123Asp Multiple submitters retinitis pigmentosa 61
  • p.Arg207Ter Multiple submitters Usher syndrome type 3A
  • p.Asn202Lys Multiple submitters Usher syndrome type 3A
  • p.Cys11fs Multiple submitters retinitis pigmentosa 61
  • p.Gln181Ter Multiple submitters retinitis pigmentosa 61
  • p.Gln52Ter Multiple submitters inherited retinal dystrophy
  • p.Gln5Ter Multiple submitters Usher syndrome type 3A
  • p.Gly43Val Multiple submitters Usher syndrome type 3
  • p.Gly64Arg Multiple submitters retinitis pigmentosa 61
  • p.His67fs Multiple submitters retinitis pigmentosa 61
  • p.Ile168fs Multiple submitters CLRN1-related disorder
  • p.Leu154Trp Multiple submitters Usher syndrome type 3A
  • p.Leu32Ter Multiple submitters retinitis pigmentosa 61
  • p.Leu46fs Multiple submitters Usher syndrome type 3
  • p.Phe193fs Multiple submitters retinitis pigmentosa 61
  • p.Tyr100Ter Multiple submitters Usher syndrome type 3A
  • p.Tyr171Ter Multiple submitters retinitis pigmentosa 61
  • p.Tyr176Ter Multiple submitters retinitis pigmentosa 61
  • p.Tyr185Ter Multiple submitters retinitis pigmentosa 61
  • p.Val47fs Multiple submitters retinitis pigmentosa 61

Likely pathogenic 39

Conflicting classifications of pathogenicity 13

Benign 27

Likely benign 130

Uncertain significance 162