Sugi Variant

Sugi Variant/SCAF4

SCAF4 — 345 ClinVar variants

All ClinVar germline SCAF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 213 flagged for review →

24 Pathogenic · 3 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 4 Conflicting · 2 Benign · 60 Likely benign · 237 Uncertain significance

Full SCAF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 213

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 2

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 155

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 155

Predictors split 55

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

All SCAF4 variants

Pathogenic 24

Pathogenic/Likely pathogenic 3

  • p.Arg491Ter Multiple submitters Fliedner-Zweier syndrome
  • p.Glu280fs Multiple submitters SCAF4-related disorder
  • p.Glu489fs Multiple submitters SCAF4-related disorder

Likely pathogenic 15

Conflicting classifications of pathogenicity 4

Benign 2

Likely benign 60

Uncertain significance 237