SMC4 — 145 ClinVar variants

All ClinVar germline SMC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

3 Benign · 6 Likely benign · 136 Uncertain significance

Full SMC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 101

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

Predictors split 27

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

All SMC4 variants

Benign 3

c.2478+4TG[17] Single submitter
c.2478+4TG[23] Single submitter
p.Lys854Glu Single submitter

Likely benign 6

c.2478+4TG[21] Single submitter
c.2478+4TG[22] Single submitter
p.Ala30Thr Single submitter
p.Asp939= Single submitter
p.Glu683Lys Single submitter
p.Ile603Val Single submitter

Uncertain significance 136

p.Tyr642Cys Multiple submitters bone marrow failure syndrome ⚠
c.2478+3A>G Single submitter bone marrow failure syndrome
p.Ala1223Val Single submitter ⚠
p.Ala45Ser Single submitter ⚠
p.Ala495Thr Single submitter ⚠
p.Ala651Val Single submitter ⚠
p.Ala865Thr Single submitter ⚠
p.Ala865Val Single submitter ⚠
p.Arg107Cys Single submitter ⚠
p.Arg1252Gln Single submitter ⚠
p.Arg272Gln Single submitter ⚠
p.Arg272Trp Single submitter ⚠
p.Arg317Thr Single submitter ⚠
p.Arg333Gln Single submitter ⚠
p.Arg38Gly Single submitter ⚠
p.Arg3Gly Single submitter ⚠
p.Arg481Gln Single submitter ⚠
p.Arg496Cys Single submitter ⚠
p.Arg496Leu Single submitter ⚠
p.Arg594Gln Single submitter ⚠
p.Arg692His Single submitter ⚠
p.Arg705Cys Single submitter ⚠
p.Arg808Gln Single submitter ⚠
p.Arg808Trp Single submitter ⚠
p.Arg815Lys Single submitter ⚠
p.Arg886Cys Single submitter ⚠
p.Arg886His Single submitter ⚠
p.Arg943Gly Single submitter ⚠
p.Asn1190Ser Single submitter ⚠
p.Asn377Lys Single submitter ⚠
p.Asn571Asp Single submitter ⚠
p.Asn662Ser Single submitter ⚠
p.Asn662Thr Single submitter ⚠
p.Asn889Ser Single submitter ⚠
p.Asn896Ser Single submitter ⚠
p.Asn992Ser Single submitter ⚠
p.Asp1219Asn Single submitter ⚠
p.Asp208Tyr Single submitter ⚠
p.Asp247Asn Single submitter
p.Asp247His Single submitter ⚠
p.Asp368Asn Single submitter ⚠
p.Asp394Tyr Single submitter ⚠
p.Asp786Asn Single submitter ⚠
p.Asp931Asn Single submitter ⚠
p.Gln324Arg Single submitter ⚠
p.Gln7Arg Single submitter ⚠
p.Glu283Gln Single submitter
p.Glu299Gly Single submitter ⚠
p.Glu307Lys Single submitter ⚠
p.Glu505Ter Single submitter
p.Glu606Lys Single submitter
p.Glu954Gly Single submitter ⚠
p.Glu971Gln Single submitter ⚠
p.Glu985Gln Single submitter ⚠
p.Glu996Asp Single submitter ⚠
p.Gly230Ser Single submitter ⚠
p.Gly473Glu Single submitter ⚠
p.Gly487Ser Single submitter ⚠
p.Gly597Arg Single submitter ⚠
p.Gly670Cys Single submitter ⚠
p.Gly755Arg Single submitter ⚠
p.His152Gln Single submitter ⚠
p.His152Tyr Single submitter ⚠
p.His222Arg Single submitter ⚠
p.His345Asp Single submitter ⚠
p.His990Tyr Single submitter ⚠
p.Ile1032Leu Single submitter ⚠
p.Ile1221Leu Single submitter ⚠
p.Ile1237Thr Single submitter ⚠
p.Ile178Thr Single submitter ⚠
p.Ile327Val Single submitter ⚠
p.Ile334Val Single submitter ⚠
p.Ile344Leu Single submitter ⚠
p.Ile379Thr Single submitter ⚠
p.Ile431Thr Single submitter ⚠
p.Ile528Thr Single submitter ⚠
p.Ile650Arg Single submitter ⚠
p.Ile650Lys Single submitter ⚠
p.Ile650Met Single submitter ⚠
p.Leu1012Val Single submitter ⚠
p.Leu449Phe Single submitter ⚠
p.Leu449Val Single submitter ⚠
p.Leu520Ile Single submitter ⚠
p.Leu579Val Single submitter ⚠
p.Leu847Val Single submitter ⚠
p.Lys1242Asn Single submitter ⚠
p.Lys153Arg Single submitter ⚠
p.Lys341Asn Single submitter ⚠
p.Lys367Glu Single submitter ⚠
p.Lys375Arg Single submitter ⚠
p.Lys4Glu Single submitter ⚠
p.Lys573Arg Single submitter ⚠
p.Lys598Asn Single submitter
p.Lys679Asn Single submitter ⚠
p.Lys853Gln Single submitter ⚠
p.Lys946Glu Single submitter ⚠
p.Met486Thr Single submitter ⚠
p.Met499Arg Single submitter ⚠
p.Met674Val Single submitter
p.Met751Val Single submitter ⚠
p.Met779Thr Single submitter ⚠
p.Phe104Leu Single submitter ⚠
p.Phe1256Ser Single submitter ⚠
p.Phe382Cys Single submitter ⚠
p.Phe428Leu Single submitter ⚠
p.Phe821Cys Single submitter ⚠
p.Pro20Ser Single submitter ⚠
p.Pro23Arg Single submitter ⚠
p.Pro23Leu Single submitter ⚠
p.Pro32Leu Single submitter ⚠
p.Pro68Leu Single submitter ⚠
p.Pro80Ser Single submitter ⚠
p.Pro8Thr Single submitter ⚠
p.Ser22Thr Single submitter ⚠
p.Ser41Gly Single submitter ⚠
p.Ser511Arg Single submitter ⚠
p.Ser595Asn Single submitter ⚠
p.Thr10Ala Single submitter ⚠
p.Thr10Ile Single submitter ⚠
p.Thr408Ala Single submitter ⚠
p.Thr408Met Single submitter ⚠
p.Thr442Ala Single submitter ⚠
p.Thr667Ala Single submitter ⚠
p.Tyr132Cys Single submitter ⚠
p.Tyr197Cys Single submitter ⚠
p.Tyr616Cys Single submitter ⚠
p.Tyr629Cys Single submitter ⚠
p.Tyr834Phe Single submitter ⚠
p.Tyr95Cys Single submitter ⚠
p.Val177Ile Single submitter ⚠
p.Val269Gly Single submitter ⚠
p.Val269Ile Single submitter ⚠
p.Val583Ala Single submitter ⚠
p.Val727Ala Single submitter ⚠
p.Val768Leu Single submitter ⚠
p.Ala1283= No assertion criteria