Sugi Variant

Sugi Variant/SMARCB1

SMARCB1 — 1257 ClinVar variants

All ClinVar germline SMARCB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 459 flagged for review →

66 Pathogenic · 12 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 58 Conflicting · 64 Benign · 16 Benign/Likely benign · 456 Likely benign · 548 Uncertain significance

Full SMARCB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 459

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 22

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

Predicted LoF vs a conflicting call 4

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 296

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 296

Predictors split 137

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

All SMARCB1 variants

Pathogenic 66

Pathogenic/Likely pathogenic 12

  • c.363-2_363-1del Multiple submitters intellectual disability, autosomal dominant 15
  • c.*82C>T Multiple submitters schwannoma
  • p.Arg366Cys Multiple submitters intellectual disability, autosomal dominant 15
  • p.Arg374Gln Multiple submitters Coffin-Siris syndrome
  • p.Arg37Cys Multiple submitters hereditary neoplastic syndrome
  • p.Arg37His Multiple submitters SMARCB1-related BAFopathy
  • p.Arg53Leu Multiple submitters hereditary neoplastic syndrome
  • p.Asp104fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu31Ter Multiple submitters hereditary neoplastic syndrome
  • p.Lys363Glu Multiple submitters intellectual disability, autosomal dominant 15
  • p.Pro14His Multiple submitters hereditary neoplastic syndrome
  • p.Thr357Ile Multiple submitters SMARCB1-related disorder

Likely pathogenic 37

  • c.795+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.93+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.986+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.986+2T>C Multiple submitters Coffin-Siris syndrome
  • p.Arg366Ser Multiple submitters intellectual disability, autosomal dominant 15
  • p.Met27Arg Multiple submitters hereditary neoplastic syndrome
  • c.232+1G>A Single submitter
  • c.233-2A>G Single submitter
  • c.363-2A>G Single submitter
  • c.363-2del Single submitter
  • c.628+2T>C Single submitter
  • c.796-1G>A Single submitter Coffin-Siris syndrome
  • c.796-1G>C Single submitter SMARCB1-related disorder
  • c.903_986+35del Single submitter hereditary neoplastic syndrome
  • c.93+559A>G Single submitter Coffin-Siris syndrome
  • c.986+1G>T Single submitter
  • c.986+2T>G Single submitter hereditary neoplastic syndrome
  • c.987-1G>A Single submitter
  • c.987-1G>C Single submitter
  • c.987-1G>T Single submitter
  • p.Arg366Gly Single submitter intellectual disability, autosomal dominant 15
  • p.Arg373Lys Single submitter intellectual disability, autosomal dominant 15
  • p.Arg377Leu Single submitter intellectual disability, autosomal dominant 15
  • p.Gln244fs Single submitter hereditary neoplastic syndrome
  • p.Glu362del Single submitter intellectual disability, autosomal dominant 15
  • p.Gly271Glu Single submitter intellectual disability, autosomal dominant 15
  • p.Leu378Pro Single submitter ⚠
  • p.Leu90fs Single submitter rhabdoid tumor predisposition syndrome 1
  • p.Met4fs Single submitter SMARCB1-related schwannomatosis
  • p.Phe307fs Single submitter rhabdoid tumor predisposition syndrome 1
  • p.Pro116fs Single submitter rhabdoid tumor predisposition syndrome 1
  • p.Pro290fs Single submitter hereditary neoplastic syndrome
  • p.Ser87_Val88insTer Single submitter SMARCB1-related disorder
  • p.Trp321Ter Single submitter SMARCB1-related disorder
  • p.Arg201Gln No assertion criteria intellectual disability, autosomal dominant 15
  • p.Arg377Gly No assertion criteria NK-cell enteropathy
  • p.His269Tyr No assertion criteria SMARCB1-related disorder

Conflicting classifications of pathogenicity 58

  • c.1118+4C>A Single submitter hereditary neoplastic syndrome
  • c.1118+4C>G Single submitter intellectual disability, autosomal dominant 15
  • c.1118+6C>G Single submitter intellectual disability, autosomal dominant 15
  • c.1119-12C>G Single submitter Coffin-Siris syndrome
  • c.1119-3dup Single submitter hereditary neoplastic syndrome
  • c.233-3C>T Single submitter hereditary neoplastic syndrome
  • c.233-9_233-6del Single submitter hereditary neoplastic syndrome
  • c.362+8G>A Single submitter
  • c.628+13C>T Single submitter hereditary neoplastic syndrome
  • c.628+4C>T Single submitter hereditary neoplastic syndrome
  • c.795+5G>A Single submitter rhabdoid tumor predisposition syndrome 1
  • c.796-5C>T Single submitter hereditary neoplastic syndrome
  • c.987-13C>T Single submitter hereditary neoplastic syndrome
  • c.987-4G>A Single submitter hereditary neoplastic syndrome
  • c.987-4G>C Single submitter hereditary neoplastic syndrome
  • c.987-4G>T Single submitter hereditary neoplastic syndrome
  • c.*17C>T Single submitter SMARCB1-related schwannomatosis
  • c.*70C>T Single submitter Coffin-Siris syndrome
  • p.Ala125Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala174Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala203Thr Single submitter SMARCB1-related schwannomatosis ⚠
  • p.Ala238Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala312_Ala327del Single submitter hereditary neoplastic syndrome
  • p.Arg190Trp Single submitter SMARCB1-related schwannomatosis ⚠
  • p.Arg341Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg374Trp Single submitter intellectual disability, autosomal dominant 15 ⚠
  • p.Arg377Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn103= Single submitter hereditary neoplastic syndrome
  • p.Asn207Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln368Ter Single submitter rhabdoid tumor predisposition syndrome 1 ⚠
  • p.Glu122Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu20_Phe25del Single submitter
  • p.Glu246Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu31Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly11Arg Single submitter intellectual disability ⚠
  • p.Gly29= Single submitter hereditary neoplastic syndrome
  • p.Ile112= Single submitter hereditary neoplastic syndrome
  • p.Ile264Val Single submitter rhabdoid tumor predisposition syndrome 1 ⚠
  • p.Leu186= Single submitter hereditary neoplastic syndrome
  • p.Leu356fs Single submitter intellectual disability, autosomal dominant 15 ⚠
  • p.Lys211= Single submitter rhabdoid tumor predisposition syndrome 1
  • p.Lys296Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys363Asn Single submitter SMARCB1-related BAFopathy ⚠
  • p.Met1Val Single submitter SMARCB1-related schwannomatosis ⚠
  • p.Phe39= Single submitter hereditary neoplastic syndrome
  • p.Ser148= Single submitter hereditary neoplastic syndrome
  • p.Ser252Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser299Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr114Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr214Met Single submitter ovarian cancer ⚠
  • p.Thr232Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr250= Single submitter hereditary neoplastic syndrome
  • p.Thr250Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr343Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr357Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr381Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr72fs Single submitter Developmental disorder ⚠
  • p.Val57Met Single submitter rhabdoid tumor predisposition syndrome 1 ⚠

Benign 64

Benign/Likely benign 16

  • c.362+7C>T Multiple submitters Coffin-Siris syndrome
  • c.500+24C>G Multiple submitters Coffin-Siris syndrome
  • c.500+65G>A Multiple submitters
  • c.796-13G>T Multiple submitters hereditary neoplastic syndrome
  • c.987-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.-115C>T Multiple submitters rhabdoid tumor predisposition syndrome 1
  • c.-184G>A Multiple submitters SMARCB1-related schwannomatosis
  • c.-31C>T Multiple submitters SMARCB1-related schwannomatosis
  • p.Arg366= Multiple submitters hereditary neoplastic syndrome
  • p.Arg377= Multiple submitters hereditary neoplastic syndrome
  • p.Gly344= Multiple submitters hereditary neoplastic syndrome
  • p.Pro146= Multiple submitters hereditary neoplastic syndrome
  • p.Ser329= Multiple submitters hereditary neoplastic syndrome
  • p.Thr232= Multiple submitters hereditary neoplastic syndrome
  • p.Thr372= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr326= Multiple submitters hereditary neoplastic syndrome

Likely benign 456

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

Uncertain significance 548

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