Sugi Variant

Sugi Variant/SMARCD2

SMARCD2 — 352 ClinVar variants

All ClinVar germline SMARCD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

19 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 3 Conflicting · 4 Benign · 9 Benign/Likely benign · 177 Likely benign · 131 Uncertain significance

Full SMARCD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 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 29

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

All SMARCD2 variants

Pathogenic 19

Pathogenic/Likely pathogenic 1

  • p.Arg192Ter Multiple submitters SMARCD2-related disorder

Likely pathogenic 8

Conflicting classifications of pathogenicity 3

Benign 4

Benign/Likely benign 9

Likely benign 177

Uncertain significance 131