Sugi Variant

Sugi Variant/FGD1

FGD1 — 575 ClinVar variants

All ClinVar germline FGD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 223 flagged for review →

48 Pathogenic · 9 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 37 Conflicting · 35 Benign · 32 Benign/Likely benign · 141 Likely benign · 231 Uncertain significance

Full FGD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 223

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 24

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 159

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 159

Predictors split 38

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

All FGD1 variants

Pathogenic 48

Pathogenic/Likely pathogenic 9

  • p.Arg193Ter Multiple submitters Aarskog-Scott syndrome, X-linked
  • p.Arg443Cys Multiple submitters FGD1-related disorder
  • p.Arg522His Multiple submitters Aarskog-Scott syndrome, X-linked
  • p.Arg567Ter Multiple submitters FGD1-related disorder
  • p.Arg610Gln Multiple submitters FGD1-related disorder
  • p.Arg910Ter Multiple submitters Aarskog-Scott syndrome, X-linked
  • p.Leu177fs Multiple submitters FGD1-related disorder
  • p.Pro176fs Multiple submitters Inborn genetic diseases
  • p.Tyr93fs Multiple submitters Aarskog-Scott syndrome, X-linked

Likely pathogenic 42

Conflicting classifications of pathogenicity 37

Benign 35

Benign/Likely benign 32

Likely benign 141

Uncertain significance 231