Sugi Variant

Sugi Variant/CFL2

CFL2 — 154 ClinVar variants

All ClinVar germline CFL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 18 Benign · 2 Benign/Likely benign · 44 Likely benign · 80 Uncertain significance

Full CFL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 1

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

Predictors lean, ClinVar uncertain 31

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

Predictors split 17

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

All CFL2 variants

Pathogenic 6

  • p.Lys34fs Multiple submitters CFL2-related disorder
  • c.4-115A>C Single submitter nemaline myopathy 7
  • c.4-115A>G Single submitter nemaline myopathy 7
  • p.Ala52fs Single submitter nemaline myopathy 7
  • p.Ser113fs Single submitter nemaline myopathy 7
  • p.Ala35Thr No assertion criteria nemaline myopathy 7

Likely pathogenic 1

Conflicting classifications of pathogenicity 3

Benign 18

Benign/Likely benign 2

  • c.*35C>T Multiple submitters nemaline myopathy 7
  • p.Val5= Multiple submitters nemaline myopathy 7

Likely benign 44

Uncertain significance 80