Sugi Variant

Sugi Variant/SMARCA5

SMARCA5 — 134 ClinVar variants

All ClinVar germline SMARCA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 2 Conflicting · 3 Benign · 1 Benign/Likely benign · 5 Likely benign · 114 Uncertain significance

Full SMARCA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 99

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.

Predictors lean, ClinVar uncertain 87

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

Predictors split 10

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

All SMARCA5 variants

Pathogenic 3

Likely pathogenic 6

  • p.Pro339Ser Multiple submitters SMARCA5-associated neurodevelopmental disorder
  • c.2283+1G>A Single submitter neurodevelopmental disorder
  • p.Arg312Gly Single submitter intellectual disability
  • p.Gly208Asp Single submitter neurodevelopmental disorder
  • p.Pro339Ala Single submitter SMARCA5-associated neurodevelopmental disorder
  • p.Lys314Gln No assertion criteria Short stature

Conflicting classifications of pathogenicity 2

Benign 3

Benign/Likely benign 1

Likely benign 5

Uncertain significance 114