Sugi Variant

Sugi Variant/SCARF2

SCARF2 — 281 ClinVar variants

All ClinVar germline SCARF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

9 Pathogenic · 6 Likely pathogenic · 4 Conflicting · 42 Benign · 6 Benign/Likely benign · 45 Likely benign · 169 Uncertain significance

Full SCARF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 3

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

Predictors lean, ClinVar uncertain 120

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

Predictors split 42

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

All SCARF2 variants

Pathogenic 9

  • p.Arg475Trp Single submitter Fetal anomalies with a likely genetic cause
  • p.Tyr368Ter Single submitter van den Ende-Gupta syndrome
  • p.Val443fs Single submitter van den Ende-Gupta syndrome
  • p.156CQ[1] No assertion criteria van den Ende-Gupta syndrome
  • p.Cys217Trp No assertion criteria van den Ende-Gupta syndrome
  • p.Cys64Arg No assertion criteria van den Ende-Gupta syndrome
  • p.Gln844fs No assertion criteria van den Ende-Gupta syndrome
  • p.Glu74Ter No assertion criteria van den Ende-Gupta syndrome
  • p.Trp148fs No assertion criteria van den Ende-Gupta syndrome

Likely pathogenic 6

  • p.Ala743fs Single submitter van den Ende-Gupta syndrome
  • p.Arg7fs Single submitter van den Ende-Gupta syndrome
  • p.Cys258Tyr Single submitter van den Ende-Gupta syndrome
  • p.Cys305Trp Single submitter van den Ende-Gupta syndrome
  • p.Met1Ile Single submitter van den Ende-Gupta syndrome
  • p.Ala9fs No assertion criteria van den Ende-Gupta syndrome

Conflicting classifications of pathogenicity 4

Benign 42

Benign/Likely benign 6

Likely benign 45

Uncertain significance 169