Sugi Variant

Sugi Variant/BRWD3

BRWD3 — 957 ClinVar variants

All ClinVar germline BRWD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 395 flagged for review →

35 Pathogenic · 4 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 26 Conflicting · 129 Benign · 45 Benign/Likely benign · 192 Likely benign · 491 Uncertain significance

Full BRWD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 395

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 3

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

Predictors agree, ClinVar conflicts 14

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

Predicted LoF vs a conflicting call 2

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 295

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 295

Predictors split 81

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

All BRWD3 variants

Pathogenic 35

Pathogenic/Likely pathogenic 4

  • p.Arg1240Ter Multiple submitters intellectual disability, X-linked 93
  • p.Arg750Ter Multiple submitters BRWD3-related disorder
  • p.Ser222fs Multiple submitters intellectual disability, X-linked 93
  • p.Trp1138Ter Multiple submitters neurodevelopmental disorder

Likely pathogenic 35

Conflicting classifications of pathogenicity 26

Benign 129

Benign/Likely benign 45

Likely benign 192

Uncertain significance 491

Showing the top 300 by review status; the full set is in the sitemap.