SMC2 — 163 ClinVar variants

All ClinVar germline SMC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

5 Benign · 4 Likely benign · 154 Uncertain significance

Full SMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 113

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

Predictors split 32

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

All SMC2 variants

Benign 5

p.Ala325Thr Multiple submitters
p.Ala619Ser Multiple submitters
p.Asp369= Multiple submitters
p.Lys1071Arg Multiple submitters
p.Leu277Phe Single submitter

Likely benign 4

p.Arg507Gln Single submitter
p.Arg696Gln Single submitter
p.Asn124Thr Single submitter ⚠
p.Ser867Leu Single submitter

Uncertain significance 154

p.Ala1029Ser Single submitter ⚠
p.Ala169Val Single submitter
p.Ala236Ser Single submitter ⚠
p.Ala276Glu Single submitter ⚠
p.Ala316Ser Single submitter ⚠
p.Ala316Thr Single submitter ⚠
p.Ala370Val Single submitter ⚠
p.Ala374Val Single submitter ⚠
p.Ala376Val Single submitter ⚠
p.Ala385Ser Single submitter ⚠
p.Ala498Thr Single submitter ⚠
p.Ala636Thr Single submitter ⚠
p.Ala636Val Single submitter ⚠
p.Ala640Ser Single submitter ⚠
p.Ala747Val Single submitter ⚠
p.Ala783Ser Single submitter ⚠
p.Ala894Thr Single submitter ⚠
p.Arg1132Cys Single submitter ⚠
p.Arg1132His Single submitter ⚠
p.Arg172Lys Single submitter ⚠
p.Arg17Lys Single submitter ⚠
p.Arg232Cys Single submitter ⚠
p.Arg248Cys Single submitter ⚠
p.Arg248His Single submitter ⚠
p.Arg297Ter Single submitter
p.Arg308Gln Single submitter ⚠
p.Arg482His Single submitter ⚠
p.Arg487Cys Single submitter ⚠
p.Arg487Gly Single submitter ⚠
p.Arg487His Single submitter ⚠
p.Arg571His Single submitter ⚠
p.Arg572Gln Single submitter ⚠
p.Arg584Ser Single submitter ⚠
p.Arg592Lys Single submitter ⚠
p.Arg696Trp Single submitter ⚠
p.Arg713Cys Single submitter ⚠
p.Arg713His Single submitter ⚠
p.Arg789Gln Single submitter ⚠
p.Arg922Trp Single submitter
p.Asn1053Asp Single submitter ⚠
p.Asn1076Ser Single submitter ⚠
p.Asn21Ser Single submitter ⚠
p.Asn28Ser Single submitter ⚠
p.Asn432Ser Single submitter ⚠
p.Asn53Ser Single submitter ⚠
p.Asn551Ser Single submitter ⚠
p.Asn632Ser Single submitter ⚠
p.Asn693Ser Single submitter ⚠
p.Asn904His Single submitter ⚠
p.Asn904Ser Single submitter ⚠
p.Asn952Ser Single submitter ⚠
p.Asp244Tyr Single submitter ⚠
p.Asp441Asn Single submitter ⚠
p.Asp441His Single submitter ⚠
p.Asp634Asn Single submitter ⚠
p.Asp634His Single submitter ⚠
p.Asp746Tyr Single submitter ⚠
p.Asp914Glu Single submitter ⚠
p.Asp937His Single submitter
p.Cys405Trp Single submitter ⚠
p.Gln1024Arg Single submitter ⚠
p.Gln428Lys Single submitter ⚠
p.Gln734Arg Single submitter ⚠
p.Gln742Arg Single submitter ⚠
p.Gln838Lys Single submitter ⚠
p.Gln878Arg Single submitter ⚠
p.Glu167Ala Single submitter ⚠
p.Glu213Gly Single submitter ⚠
p.Glu243Lys Single submitter ⚠
p.Glu327Lys Single submitter ⚠
p.Glu514Gln Single submitter ⚠
p.Glu743Lys Single submitter ⚠
p.Glu814Gln Single submitter ⚠
p.Glu880Asp Single submitter ⚠
p.Glu901Lys Single submitter ⚠
p.Glu974Gly Single submitter ⚠
p.Gly1051Ser Single submitter ⚠
p.Gly400Asp Single submitter
p.Gly400Val Single submitter ⚠
p.Gly599Cys Single submitter ⚠
p.Gly599Val Single submitter ⚠
p.Gly653Arg Single submitter
p.Gly704Ser Single submitter ⚠
p.His604Pro Single submitter ⚠
p.His660Tyr Single submitter ⚠
p.His899Asn Single submitter ⚠
p.His98Pro Single submitter
p.Ile165Met Single submitter ⚠
p.Ile179Thr Single submitter ⚠
p.Ile179Val Single submitter ⚠
p.Ile207Val Single submitter ⚠
p.Ile575Val Single submitter ⚠
p.Ile576Val Single submitter
p.Ile6Val Single submitter ⚠
p.Ile81Val Single submitter ⚠
p.Leu1112Phe Single submitter ⚠
p.Leu233Ser Single submitter ⚠
p.Leu240Phe Single submitter ⚠
p.Leu319Phe Single submitter ⚠
p.Leu48Phe Single submitter ⚠
p.Leu541Ser Single submitter ⚠
p.Leu569Val Single submitter ⚠
p.Lys1005Arg Single submitter ⚠
p.Lys157Glu Single submitter ⚠
p.Lys187Gln Single submitter ⚠
p.Lys322Glu Single submitter ⚠
p.Lys424Arg Single submitter ⚠
p.Lys561Glu Single submitter ⚠
p.Lys682Arg Single submitter ⚠
p.Lys711Asn Single submitter ⚠
p.Lys815Thr Single submitter ⚠
p.Lys830Glu Single submitter ⚠
p.Lys837Arg Single submitter ⚠
p.Lys88Glu Single submitter ⚠
p.Met1002Lys Single submitter ⚠
p.Met1055Val Single submitter ⚠
p.Met402Thr Single submitter ⚠
p.Met620Val Single submitter ⚠
p.Met857Val Single submitter ⚠
p.Pro1058Ser Single submitter ⚠
p.Pro1059Ser Single submitter ⚠
p.Ser215Trp Single submitter ⚠
p.Ser268Phe Single submitter ⚠
p.Ser298Phe Single submitter ⚠
p.Ser477Arg Single submitter ⚠
p.Ser536Tyr Single submitter ⚠
p.Ser55Tyr Single submitter ⚠
p.Ser78Tyr Single submitter ⚠
p.Ser849Phe Single submitter ⚠
p.Thr104Ser Single submitter ⚠
p.Thr1077Ile Single submitter ⚠
p.Thr197Met Single submitter ⚠
p.Thr245Asn Single submitter ⚠
p.Thr292Pro Single submitter ⚠
p.Thr31Ile Single submitter ⚠
p.Thr556Ile Single submitter ⚠
p.Thr708Ala Single submitter ⚠
p.Thr803Pro Single submitter
p.Tyr234Cys Single submitter ⚠
p.Tyr234His Single submitter ⚠
p.Tyr237His Single submitter ⚠
p.Tyr444Cys Single submitter ⚠
p.Tyr470Cys Single submitter ⚠
p.Tyr470fs Single submitter
p.Tyr470Phe Single submitter ⚠
p.Tyr496Cys Single submitter ⚠
p.Tyr850Cys Single submitter ⚠
p.Tyr938Cys Single submitter ⚠
p.Val1072Ile Single submitter ⚠
p.Val223Ile Single submitter ⚠
p.Val603Leu Single submitter ⚠
p.Val650Ile Single submitter ⚠
p.Val843Ala Single submitter ⚠
p.Lys921Asn No assertion criteria Wiedemann-Rautenstrauch-like progeroid syndrome ⚠