Sugi Variant

Sugi Variant/PFN1

PFN1 — 99 ClinVar variants

All ClinVar germline PFN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 9 Benign · 2 Benign/Likely benign · 40 Likely benign · 42 Uncertain significance

Full PFN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 33

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 21

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

Predictors split 11

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

All PFN1 variants

Pathogenic 4

  • p.Cys71Gly Single submitter amyotrophic lateral sclerosis type 18
  • p.Gly118Val Single submitter amyotrophic lateral sclerosis type 18
  • p.Met114Thr Single submitter amyotrophic lateral sclerosis type 18 ⚠
  • c.325+10T>C No assertion criteria PAGET DISEASE OF BONE 7, EARLY-ONSET

Likely pathogenic 1

  • p.Asp107fs Multiple submitters amyotrophic lateral sclerosis type 18

Conflicting classifications of pathogenicity 1

  • p.Glu117Gly Single submitter amyotrophic lateral sclerosis type 18 ⚠

Benign 9

Benign/Likely benign 2

  • p.Glu117Asp Multiple submitters amyotrophic lateral sclerosis type 18
  • p.Ser133= Multiple submitters

Likely benign 40

Uncertain significance 42