Sugi Variant

Sugi Variant/SMARCD1

SMARCD1 — 111 ClinVar variants

All ClinVar germline SMARCD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

7 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 9 Benign · 1 Benign/Likely benign · 15 Likely benign · 76 Uncertain significance

Full SMARCD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 1

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

Predictors lean, ClinVar uncertain 43

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

Predictors split 25

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

All SMARCD1 variants

Pathogenic 7

Likely pathogenic 2

  • p.Ile424Thr Single submitter Coffin-Siris syndrome 11
  • p.Arg351Cys No assertion criteria alopecia, androgenetic, 1

Conflicting classifications of pathogenicity 1

Benign 9

Benign/Likely benign 1

  • p.Gln112His Multiple submitters Coffin-Siris syndrome 11

Likely benign 15

Uncertain significance 76