Sugi Variant

Sugi Variant/SMARCC1

SMARCC1 — 208 ClinVar variants

All ClinVar germline SMARCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 2 Conflicting · 3 Benign · 27 Likely benign · 164 Uncertain significance

Full SMARCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 1

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 102

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

Predictors split 43

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

All SMARCC1 variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

  • p.Arg433Ter Multiple submitters hydrocephalus, congenital, 5, susceptibility to

Likely pathogenic 9

  • p.Arg323Ter Multiple submitters hydrocephalus, congenital, 5, susceptibility to
  • p.Arg297fs Single submitter hydrocephalus, congenital, 5, susceptibility to
  • p.Arg955Ter Single submitter SMARCC1-associated developmental dysgenesis syndrome
  • p.Asp675Gly Single submitter ⚠
  • p.Leu559Ter Single submitter congenital hydrocephalus
  • p.Leu898_Leu899delinsPro Single submitter Global developmental delay
  • p.Gln531fs No assertion criteria congenital hydrocephalus
  • p.Lys179Ter No assertion criteria congenital hydrocephalus
  • p.Thr415fs No assertion criteria congenital hydrocephalus

Conflicting classifications of pathogenicity 2

Benign 3

Likely benign 27

Uncertain significance 164