Sugi Variant

Sugi Variant/FN1

FN1 — 2017 ClinVar variants

All ClinVar germline FN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 903 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 121 Conflicting · 218 Benign · 70 Benign/Likely benign · 617 Likely benign · 961 Uncertain significance

Full FN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 903

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 1

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

Predictors agree, ClinVar conflicts 95

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

Predictors lean, ClinVar uncertain 653

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 653

Predictors split 154

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 154

All FN1 variants

Pathogenic 12

  • p.Cys87Trp Multiple submitters spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Tyr973Cys Multiple submitters glomerulopathy with fibronectin deposits 2
  • c.685+1G>A Single submitter
  • c.685+1G>C Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Cys213Tyr Single submitter spondylometaphyseal dysplasia
  • p.Cys225Phe Single submitter
  • p.Trp1017Cys Single submitter Inborn genetic diseases
  • p.Leu1974Arg No assertion criteria glomerulopathy with fibronectin deposits 2
  • p.Leu1974Pro No assertion criteria glomerulopathy with fibronectin deposits 2
  • p.Pro1472del No assertion criteria glomerulopathy with fibronectin deposits 2
  • p.Trp1925Arg No assertion criteria glomerulopathy with fibronectin deposits 2
  • p.Trp1925Cys No assertion criteria glomerulopathy with fibronectin deposits 2

Pathogenic/Likely pathogenic 2

  • p.Cys123Arg Multiple submitters neurodevelopmental disorder
  • p.Cys225Trp Multiple submitters spondylometaphyseal dysplasia, 'corner fracture' type

Likely pathogenic 16

  • p.Cys231Trp Multiple submitters spondylometaphyseal dysplasia, 'corner fracture' type
  • c.685+3A>G Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Cys186Arg Single submitter FN1-related disorders
  • p.Cys213Arg Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Cys213Phe Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Cys260Gly Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Cys260Tyr Single submitter FN1-related disorders
  • p.Cys87Phe Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Gln1004fs Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Gly313Val Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • p.Pro2094Leu Single submitter ⚠
  • p.Tyr240Asp Single submitter spondylometaphyseal dysplasia, 'corner fracture' type
  • c.7144+1G>A No assertion criteria glomerulopathy with fibronectin deposits 2
  • p.Cys123Tyr No assertion criteria spondylometaphyseal dysplasia
  • p.Cys169Tyr No assertion criteria spondylometaphyseal dysplasia
  • p.Ile2460Thr No assertion criteria nephrotic syndrome ⚠

Conflicting classifications of pathogenicity 121

Benign 218

Benign/Likely benign 70

Likely benign 617

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 961

Showing the top 300 by review status; the full set is in the sitemap.