SORBS1 — 215 ClinVar variants
All ClinVar germline SORBS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →
7 Benign · 15 Likely benign · 193 Uncertain significance
Full SORBS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 186
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 118
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SORBS1 p.Ala1013Val Uncertain significance Single submitter
- SORBS1 p.Ala1022Thr Uncertain significance Single submitter
- SORBS1 p.Ala1184Thr Uncertain significance Single submitter
- SORBS1 p.Ala1207Val Uncertain significance Single submitter
- SORBS1 p.Ala17Thr Uncertain significance Single submitter
- SORBS1 p.Ala196Pro Uncertain significance Single submitter
- SORBS1 p.Ala300Thr Uncertain significance Single submitter
- SORBS1 p.Ala33Ser Uncertain significance Single submitter
- SORBS1 p.Ala33Thr Uncertain significance Single submitter
- SORBS1 p.Ala359Thr Uncertain significance Single submitter
- SORBS1 p.Ala502Val Uncertain significance Single submitter
- SORBS1 p.Arg1043Cys Uncertain significance Single submitter
- SORBS1 p.Arg1043His Uncertain significance Single submitter
- SORBS1 p.Arg1047Gln Uncertain significance Single submitter
- SORBS1 p.Arg1121Cys Uncertain significance Single submitter
- SORBS1 p.Arg1133Ser Uncertain significance Single submitter
- SORBS1 p.Arg1195Gln Uncertain significance Single submitter
- SORBS1 p.Arg1195Trp Uncertain significance Single submitter
- SORBS1 p.Arg1208Trp Uncertain significance Single submitter
- SORBS1 p.Arg1220Gln Uncertain significance Single submitter
- SORBS1 p.Arg323Gln Uncertain significance Single submitter
- SORBS1 p.Arg32Cys Uncertain significance Single submitter
- SORBS1 p.Arg32His Uncertain significance Single submitter
- SORBS1 p.Arg34Cys Uncertain significance Single submitter
- SORBS1 p.Arg34Gly Uncertain significance Single submitter
- SORBS1 p.Arg34His Uncertain significance Single submitter
- SORBS1 p.Arg386Trp Uncertain significance Single submitter
- SORBS1 p.Arg749Cys Uncertain significance Single submitter
- SORBS1 p.Arg898Trp Uncertain significance Single submitter
- SORBS1 p.Arg914Gln Uncertain significance Single submitter
- SORBS1 p.Arg975Gln Uncertain significance Single submitter
- SORBS1 p.Arg999Cys Uncertain significance Single submitter
- SORBS1 p.Asn548Ser Uncertain significance Single submitter
- SORBS1 p.Asn603Asp Uncertain significance Single submitter
- SORBS1 p.Asp1077Glu Uncertain significance Single submitter
- SORBS1 p.Asp1232Asn Uncertain significance Single submitter
- SORBS1 p.Asp1254Tyr Uncertain significance Single submitter
- SORBS1 p.Asp209Tyr Uncertain significance Single submitter
- SORBS1 p.Asp24Asn Uncertain significance Single submitter
- SORBS1 p.Asp554Val Uncertain significance Single submitter
- SORBS1 p.Asp803Val Uncertain significance Single submitter
- SORBS1 p.Gln612Arg Uncertain significance Single submitter
- SORBS1 p.Gln91Glu Uncertain significance Single submitter
- SORBS1 p.Glu1137Lys Uncertain significance Single submitter
- SORBS1 p.Glu1163Lys Uncertain significance Single submitter
- SORBS1 p.Glu174Lys Uncertain significance Single submitter
- SORBS1 p.Glu432Lys Uncertain significance Single submitter
- SORBS1 p.Glu750Lys Uncertain significance Single submitter
- SORBS1 p.Glu906Lys Uncertain significance Single submitter
- SORBS1 p.Gly1098Trp Uncertain significance Single submitter
- SORBS1 p.Gly1139Asp Uncertain significance Single submitter
- SORBS1 p.Gly1255Arg Uncertain significance Single submitter
- SORBS1 p.Gly382Asp Uncertain significance Single submitter
- SORBS1 p.His1081Arg Uncertain significance Single submitter
- SORBS1 p.His221Asp Uncertain significance Single submitter
- SORBS1 p.His96Asp Uncertain significance Single submitter
- SORBS1 p.His972Asp Uncertain significance Single submitter
- SORBS1 p.Ile160Val Uncertain significance Single submitter
- SORBS1 p.Ile284Asn Uncertain significance Single submitter
- SORBS1 p.Ile284Met Uncertain significance Single submitter
- SORBS1 p.Ile594Val Uncertain significance Single submitter
- SORBS1 p.Ile894Met Uncertain significance Single submitter
- SORBS1 p.Leu1003Val Uncertain significance Single submitter
- SORBS1 p.Leu102Val Uncertain significance Single submitter
- SORBS1 p.Leu186Phe Uncertain significance Single submitter
- SORBS1 p.Leu263Val Uncertain significance Single submitter
- SORBS1 p.Leu31Val Uncertain significance Single submitter
- SORBS1 p.Leu977Val Uncertain significance Single submitter
- SORBS1 p.Lys1130Gln Uncertain significance Single submitter
- SORBS1 p.Lys521Arg Uncertain significance Single submitter
- SORBS1 p.Pro1029Ala Uncertain significance Single submitter
- SORBS1 p.Pro1044Leu Uncertain significance Single submitter
- SORBS1 p.Pro1056Thr Uncertain significance Single submitter
- SORBS1 p.Pro1119Leu Uncertain significance Single submitter
- SORBS1 p.Pro1140His Uncertain significance Single submitter
- SORBS1 p.Pro1244Ser Uncertain significance Single submitter
- SORBS1 p.Pro190Thr Uncertain significance Single submitter
- SORBS1 p.Pro201Ser Uncertain significance Single submitter
- SORBS1 p.Pro205Leu Uncertain significance Single submitter
- SORBS1 p.Pro244Leu Uncertain significance Single submitter
- SORBS1 p.Pro274Arg Uncertain significance Single submitter
- SORBS1 p.Pro302Ser Uncertain significance Single submitter
- SORBS1 p.Pro30Ser Uncertain significance Single submitter
- SORBS1 p.Pro351Ser Uncertain significance Single submitter
- SORBS1 p.Pro410His Uncertain significance Single submitter
- SORBS1 p.Pro518Thr Uncertain significance Single submitter
- SORBS1 p.Pro532His Uncertain significance Single submitter
- SORBS1 p.Pro766Ala Uncertain significance Single submitter
- SORBS1 p.Pro83Ser Uncertain significance Single submitter
- SORBS1 p.Pro929Ser Uncertain significance Single submitter
- SORBS1 p.Ser1028Asn Uncertain significance Single submitter
- SORBS1 p.Ser1068Phe Uncertain significance Single submitter
- SORBS1 p.Ser107Phe Uncertain significance Single submitter
- SORBS1 p.Ser1085Leu Uncertain significance Single submitter
- SORBS1 p.Ser268Thr Uncertain significance Single submitter
- SORBS1 p.Ser326Gly Uncertain significance Single submitter
- SORBS1 p.Ser35Pro Uncertain significance Single submitter
- SORBS1 p.Ser391Ala Uncertain significance Single submitter
- SORBS1 p.Ser495Leu Uncertain significance Single submitter
- SORBS1 p.Ser511Leu Uncertain significance Single submitter
- SORBS1 p.Ser552Thr Uncertain significance Single submitter
- SORBS1 p.Ser572Leu Uncertain significance Single submitter
- SORBS1 p.Ser630Arg Uncertain significance Single submitter
- SORBS1 p.Thr237Met Uncertain significance Single submitter
- SORBS1 p.Thr264Met Uncertain significance Single submitter
- SORBS1 p.Thr624Ala Uncertain significance Single submitter
- SORBS1 p.Thr624Met Uncertain significance Single submitter
- SORBS1 p.Thr912Ile Uncertain significance Single submitter
- SORBS1 p.Thr921Ile Uncertain significance Single submitter
- SORBS1 p.Trp218Gly Uncertain significance Single submitter
- SORBS1 p.Trp585Arg Uncertain significance Single submitter
- SORBS1 p.Trp904Arg Uncertain significance Single submitter
- SORBS1 p.Tyr79Cys Uncertain significance Single submitter
- SORBS1 p.Val1103Ile Uncertain significance Single submitter
- SORBS1 p.Val1157Ile Uncertain significance Single submitter
- SORBS1 p.Val633Met Uncertain significance Single submitter
- SORBS1 p.Val923Met Uncertain significance Single submitter
-
SORBS1 p.Arg1047Pro
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 68
The independent predictors disagree with each other — read with care.
- SORBS1 p.Ala660Ser Uncertain significance Single submitter
- SORBS1 p.Ala742Val Uncertain significance Single submitter
- SORBS1 p.Arg1253Cys Uncertain significance Single submitter
- SORBS1 p.Arg334Gly Uncertain significance Single submitter
- SORBS1 p.Arg407Thr Uncertain significance Single submitter
- SORBS1 p.Arg526Gly Uncertain significance Single submitter
- SORBS1 p.Arg663Lys Uncertain significance Single submitter
- SORBS1 p.Arg749His Uncertain significance Single submitter
- SORBS1 p.Arg844Cys Uncertain significance Single submitter
- SORBS1 p.Arg928Gln Uncertain significance Single submitter
- SORBS1 p.Arg948Cys Uncertain significance Single submitter
- SORBS1 p.Asp1225Asn Uncertain significance Single submitter
- SORBS1 p.Asp1254Asn Uncertain significance Single submitter
- SORBS1 p.Asp1254Gly Uncertain significance Single submitter
- SORBS1 p.Asp208Ala Uncertain significance Single submitter
- SORBS1 p.Asp375Asn Uncertain significance Single submitter
- SORBS1 p.Asp379Glu Uncertain significance Single submitter
- SORBS1 p.Asp520Glu Uncertain significance Single submitter
- SORBS1 p.Gln320Glu Uncertain significance Single submitter
- SORBS1 p.Gln320His Uncertain significance Single submitter
- SORBS1 p.Gln857Arg Benign Single submitter
- SORBS1 p.Gln899Leu Uncertain significance Single submitter
- SORBS1 p.Glu614Val Uncertain significance Single submitter
- SORBS1 p.Glu987Lys Uncertain significance Single submitter
- SORBS1 p.Gly8Arg Uncertain significance Single submitter
- SORBS1 p.His734Arg Uncertain significance Single submitter
- SORBS1 p.Ile486Thr Uncertain significance Single submitter
- SORBS1 p.Ile535Val Uncertain significance Single submitter
- SORBS1 p.Ile594Phe Uncertain significance Single submitter
- SORBS1 p.Ile653Met Uncertain significance Single submitter
- SORBS1 p.Ile653Val Uncertain significance Single submitter
- SORBS1 p.Ile756Val Uncertain significance Single submitter
- SORBS1 p.Leu164Phe Uncertain significance Single submitter
- SORBS1 p.Leu686Ser Uncertain significance Single submitter
- SORBS1 p.Leu723Ser Uncertain significance Single submitter
- SORBS1 p.Leu781Val Uncertain significance Single submitter
- SORBS1 p.Lys322Thr Uncertain significance Single submitter
- SORBS1 p.Lys357Glu Uncertain significance Single submitter
- SORBS1 p.Lys480Glu Uncertain significance Single submitter
- SORBS1 p.Lys533Arg Uncertain significance Single submitter
- SORBS1 p.Lys550Glu Uncertain significance Single submitter
- SORBS1 p.Met378Arg Uncertain significance Single submitter
- SORBS1 p.Met378Lys Uncertain significance Single submitter
- SORBS1 p.Phe204Tyr Uncertain significance Single submitter
- SORBS1 p.Phe717Val Uncertain significance Single submitter
- SORBS1 p.Phe777Leu Uncertain significance Single submitter
- SORBS1 p.Pro499Leu Uncertain significance Single submitter
- SORBS1 p.Pro579Leu Uncertain significance Single submitter
- SORBS1 p.Pro910Leu Uncertain significance Single submitter
- SORBS1 p.Pro946Ala Uncertain significance Single submitter
- SORBS1 p.Ser259Leu Likely benign Single submitter
- SORBS1 p.Ser268Trp Uncertain significance Single submitter
- SORBS1 p.Ser325Gly Uncertain significance Single submitter
- SORBS1 p.Ser326Asn Uncertain significance Single submitter
- SORBS1 p.Ser510Thr Uncertain significance Single submitter
- SORBS1 p.Ser656Tyr Uncertain significance Single submitter
- SORBS1 p.Ser76Leu Uncertain significance Single submitter
- SORBS1 p.Ser945Cys Uncertain significance Single submitter
- SORBS1 p.Ser953Asn Uncertain significance Single submitter
- SORBS1 p.Ser953Gly Uncertain significance Single submitter
- SORBS1 p.Thr418Ala Uncertain significance Single submitter
- SORBS1 p.Thr547Ala Uncertain significance Single submitter
- SORBS1 p.Thr726Met Uncertain significance Single submitter
- SORBS1 p.Thr895Ile Uncertain significance Single submitter
- SORBS1 p.Tyr441His Uncertain significance Single submitter
- SORBS1 p.Val167Leu Uncertain significance Single submitter
- SORBS1 p.Val71Met Uncertain significance Single submitter
- SORBS1 p.Val764Ile Uncertain significance Single submitter
All SORBS1 variants
Benign 7
- c.2670+6C>G Multiple submitters
- p.Gln1278= Multiple submitters
- p.Lys1277Arg Multiple submitters
- p.Pro83= Multiple submitters
- p.Ser457= Multiple submitters
- p.Thr673= Multiple submitters
- p.Gln857Arg Single submitter ⚠
Likely benign 15
- c.1654-9C>T Single submitter
- p.Arg1117= Single submitter
- p.Arg358Lys Single submitter
- p.Arg974His Single submitter
- p.Asn140Ser Single submitter
- p.Glu1249= Single submitter
- p.Gly1178Ser Single submitter
- p.Met1074Ile Single submitter
- p.Pro1096Leu Single submitter
- p.Pro249Thr Single submitter
- p.Ser259Leu Single submitter ⚠
- p.Thr181Ala Single submitter
- p.Thr57Pro Single submitter
- p.Thr613Ala Single submitter
- p.Thr964Met Single submitter
Uncertain significance 193
- c.11-1149_172+856del Single submitter SORBS1-associated Hirschsprung disease
- p.Ala1013Val Single submitter ⚠
- p.Ala1022Thr Single submitter ⚠
- p.Ala1184Thr Single submitter ⚠
- p.Ala1207Val Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala196Pro Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala33Ser Single submitter ⚠
- p.Ala33Thr Single submitter ⚠
- p.Ala359Thr Single submitter ⚠
- p.Ala502Val Single submitter ⚠
- p.Ala660Ser Single submitter ⚠
- p.Ala742Val Single submitter ⚠
- p.Arg1043Cys Single submitter ⚠
- p.Arg1043His Single submitter ⚠
- p.Arg1047Gln Single submitter ⚠
- p.Arg1121Cys Single submitter ⚠
- p.Arg1133Ser Single submitter ⚠
- p.Arg1195Gln Single submitter ⚠
- p.Arg1195Trp Single submitter ⚠
- p.Arg1208Trp Single submitter ⚠
- p.Arg1220Gln Single submitter ⚠
- p.Arg1253Cys Single submitter ⚠
- p.Arg323Gln Single submitter ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg32His Single submitter ⚠
- p.Arg334Gly Single submitter ⚠
- p.Arg34Cys Single submitter ⚠
- p.Arg34Gly Single submitter ⚠
- p.Arg34His Single submitter ⚠
- p.Arg386Trp Single submitter ⚠
- p.Arg407Thr Single submitter ⚠
- p.Arg478Cys Single submitter
- p.Arg478His Single submitter
- p.Arg526Gly Single submitter ⚠
- p.Arg663Lys Single submitter ⚠
- p.Arg749Cys Single submitter ⚠
- p.Arg749His Single submitter ⚠
- p.Arg844Cys Single submitter ⚠
- p.Arg898Gln Single submitter
- p.Arg898Trp Single submitter ⚠
- p.Arg914Gln Single submitter ⚠
- p.Arg928Gln Single submitter ⚠
- p.Arg948Cys Single submitter ⚠
- p.Arg975Gln Single submitter ⚠
- p.Arg999Cys Single submitter ⚠
- p.Asn548Ser Single submitter ⚠
- p.Asn603Asp Single submitter ⚠
- p.Asp1077Glu Single submitter ⚠
- p.Asp1225Asn Single submitter ⚠
- p.Asp1232Asn Single submitter ⚠
- p.Asp1254Asn Single submitter ⚠
- p.Asp1254Gly Single submitter ⚠
- p.Asp1254Tyr Single submitter ⚠
- p.Asp208Ala Single submitter ⚠
- p.Asp209Tyr Single submitter ⚠
- p.Asp24Asn Single submitter ⚠
- p.Asp375Asn Single submitter ⚠
- p.Asp379Glu Single submitter ⚠
- p.Asp520Glu Single submitter ⚠
- p.Asp554Val Single submitter ⚠
- p.Asp803Val Single submitter ⚠
- p.Gln320Glu Single submitter ⚠
- p.Gln320His Single submitter ⚠
- p.Gln612Arg Single submitter ⚠
- p.Gln899Leu Single submitter ⚠
- p.Gln91Glu Single submitter ⚠
- p.Glu1137Lys Single submitter ⚠
- p.Glu1163Lys Single submitter ⚠
- p.Glu174Lys Single submitter ⚠
- p.Glu423Val Single submitter
- p.Glu432Lys Single submitter ⚠
- p.Glu614Val Single submitter ⚠
- p.Glu750Lys Single submitter ⚠
- p.Glu906Lys Single submitter ⚠
- p.Glu987Lys Single submitter ⚠
- p.Gly1098Trp Single submitter ⚠
- p.Gly1139Asp Single submitter ⚠
- p.Gly1255Arg Single submitter ⚠
- p.Gly382Asp Single submitter ⚠
- p.Gly8Arg Single submitter ⚠
- p.His1081Arg Single submitter ⚠
- p.His221Asp Single submitter ⚠
- p.His734Arg Single submitter ⚠
- p.His96Asp Single submitter ⚠
- p.His972Asp Single submitter ⚠
- p.Ile160Val Single submitter ⚠
- p.Ile284Asn Single submitter ⚠
- p.Ile284Met Single submitter ⚠
- p.Ile486Thr Single submitter ⚠
- p.Ile535Val Single submitter ⚠
- p.Ile594Phe Single submitter ⚠
- p.Ile594Val Single submitter ⚠
- p.Ile653Met Single submitter ⚠
- p.Ile653Val Single submitter ⚠
- p.Ile756Val Single submitter ⚠
- p.Ile894Met Single submitter ⚠
- p.Leu1003Val Single submitter ⚠
- p.Leu102Val Single submitter ⚠
- p.Leu129Pro Single submitter
- p.Leu164Phe Single submitter ⚠
- p.Leu186Phe Single submitter ⚠
- p.Leu263Val Single submitter ⚠
- p.Leu31Val Single submitter ⚠
- p.Leu686Ser Single submitter ⚠
- p.Leu723Ser Single submitter ⚠
- p.Leu781Val Single submitter ⚠
- p.Leu977Val Single submitter ⚠
- p.Lys1130Gln Single submitter ⚠
- p.Lys322Thr Single submitter ⚠
- p.Lys357Glu Single submitter ⚠
- p.Lys480Glu Single submitter ⚠
- p.Lys521Arg Single submitter ⚠
- p.Lys533Arg Single submitter ⚠
- p.Lys550Glu Single submitter ⚠
- p.Met378Arg Single submitter ⚠
- p.Met378Lys Single submitter ⚠
- p.Phe204Tyr Single submitter ⚠
- p.Phe717Val Single submitter ⚠
- p.Phe777Leu Single submitter ⚠
- p.Pro1011Leu Single submitter
- p.Pro1029Ala Single submitter ⚠
- p.Pro1044Leu Single submitter ⚠
- p.Pro1056Thr Single submitter ⚠
- p.Pro1119Leu Single submitter ⚠
- p.Pro1140His Single submitter ⚠
- p.Pro1244Ser Single submitter ⚠
- p.Pro190Thr Single submitter ⚠
- p.Pro201Ser Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro274Arg Single submitter ⚠
- p.Pro302Ser Single submitter ⚠
- p.Pro30Ser Single submitter ⚠
- p.Pro351Ser Single submitter ⚠
- p.Pro410His Single submitter ⚠
- p.Pro43Ser Single submitter
- p.Pro499Leu Single submitter ⚠
- p.Pro518Thr Single submitter ⚠
- p.Pro532His Single submitter ⚠
- p.Pro579Leu Single submitter ⚠
- p.Pro766Ala Single submitter ⚠
- p.Pro83Ser Single submitter ⚠
- p.Pro910Leu Single submitter ⚠
- p.Pro929Ser Single submitter ⚠
- p.Pro946Ala Single submitter ⚠
- p.Ser1028Asn Single submitter ⚠
- p.Ser1068Phe Single submitter ⚠
- p.Ser107Phe Single submitter ⚠
- p.Ser1085Leu Single submitter ⚠
- p.Ser268Thr Single submitter ⚠
- p.Ser268Trp Single submitter ⚠
- p.Ser325Gly Single submitter ⚠
- p.Ser326Asn Single submitter ⚠
- p.Ser326Gly Single submitter ⚠
- p.Ser35Pro Single submitter ⚠
- p.Ser391Ala Single submitter ⚠
- p.Ser495Leu Single submitter ⚠
- p.Ser510Thr Single submitter ⚠
- p.Ser511Leu Single submitter ⚠
- p.Ser552Thr Single submitter ⚠
- p.Ser572Leu Single submitter ⚠
- p.Ser630Arg Single submitter ⚠
- p.Ser656Tyr Single submitter ⚠
- p.Ser713Leu Single submitter
- p.Ser76Leu Single submitter ⚠
- p.Ser945Cys Single submitter ⚠
- p.Ser953Asn Single submitter ⚠
- p.Ser953Gly Single submitter ⚠
- p.Thr237Met Single submitter ⚠
- p.Thr264Met Single submitter ⚠
- p.Thr418Ala Single submitter ⚠
- p.Thr547Ala Single submitter ⚠
- p.Thr624Ala Single submitter ⚠
- p.Thr624Met Single submitter ⚠
- p.Thr726Met Single submitter ⚠
- p.Thr895Ile Single submitter ⚠
- p.Thr912Ile Single submitter ⚠
- p.Thr921Ile Single submitter ⚠
- p.Trp218Gly Single submitter ⚠
- p.Trp585Arg Single submitter ⚠
- p.Trp904Arg Single submitter ⚠
- p.Tyr441His Single submitter ⚠
- p.Tyr79Cys Single submitter ⚠
- p.Val1103Ile Single submitter ⚠
- p.Val1157Ile Single submitter ⚠
- p.Val167Leu Single submitter ⚠
- p.Val633Met Single submitter ⚠
- p.Val71Met Single submitter ⚠
- p.Val764Ile Single submitter ⚠
- p.Val923Met Single submitter ⚠
- p.Arg1047Pro No assertion criteria prostate cancer ⚠