Sugi Variant

Sugi Variant/LDB3

LDB3 — 1534 ClinVar variants

All ClinVar germline LDB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 663 flagged for review →

27 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 160 Conflicting · 75 Benign · 56 Benign/Likely benign · 375 Likely benign · 831 Uncertain significance

Full LDB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 663

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 1

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

Predictors agree, ClinVar conflicts 72

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

Predictors lean, ClinVar uncertain 476

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 476

Predictors split 114

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

All LDB3 variants

Pathogenic 27

  • c.1086-247_1231+2del Single submitter myofibrillar myopathy 4
  • p.Ala482fs Single submitter myofibrillar myopathy 4
  • p.Arg559fs Single submitter myofibrillar myopathy 4
  • p.Asp359fs Single submitter myofibrillar myopathy 4
  • p.Cys551Ter Single submitter myofibrillar myopathy 4
  • p.Gln191fs Single submitter myofibrillar myopathy 4
  • p.Gln280Ter Single submitter myofibrillar myopathy 4
  • p.Gln66Ter Single submitter myofibrillar myopathy 4
  • p.Gln81fs Single submitter myofibrillar myopathy 4
  • p.Gln97fs Single submitter myofibrillar myopathy 4
  • p.Gly131fs Single submitter myofibrillar myopathy 4
  • p.Gly20fs Single submitter myofibrillar myopathy 4
  • p.Lys107Ter Single submitter myofibrillar myopathy 4
  • p.Lys21fs Single submitter myofibrillar myopathy 4
  • p.Pro34fs Single submitter myofibrillar myopathy 4
  • p.Ser189Ter Single submitter myofibrillar myopathy 4
  • p.Ser243fs Single submitter myofibrillar myopathy 4
  • p.Ser274fs Single submitter myofibrillar myopathy 4
  • p.Ser448fs Single submitter myofibrillar myopathy 4
  • p.Ser486fs Single submitter myofibrillar myopathy 4
  • p.Thr6fs Single submitter myofibrillar myopathy 4
  • p.Tyr469fs Single submitter cardiomyopathy, dilated, 2l
  • p.Tyr602Ter Single submitter myofibrillar myopathy 4
  • p.Tyr656Ter Single submitter myofibrillar myopathy 4
  • p.Gln627fs No assertion criteria cardiomyopathy, dilated, 2l
  • p.Phe575Ile No assertion criteria dilated cardiomyopathy 1C
  • p.Phe606Leu No assertion criteria dilated cardiomyopathy 1C

Pathogenic/Likely pathogenic 2

  • p.Ala147Thr Multiple submitters myofibrillar myopathy 4
  • p.Ala165Val Multiple submitters LDB3-related disorder

Likely pathogenic 8

Conflicting classifications of pathogenicity 160

Benign 75

Benign/Likely benign 56

  • c.1231+19G>A Multiple submitters dilated cardiomyopathy 1C
  • c.1231+30C>G Multiple submitters
  • c.1232-12dup Multiple submitters myofibrillar myopathy 4
  • c.689+10G>A Multiple submitters dilated cardiomyopathy 1C
  • c.689+9C>T Multiple submitters myofibrillar myopathy 4
  • c.690-17CT[3] Multiple submitters myofibrillar myopathy 4
  • c.690-4837C>T Multiple submitters myofibrillar myopathy 4
  • c.690-4A>G Multiple submitters Cardiovascular phenotype
  • c.859+14C>G Multiple submitters myofibrillar myopathy 4
  • c.896+6669TC[11] Multiple submitters myofibrillar myopathy 4
  • c.896+6669TC[12] Multiple submitters
  • c.896+6669TC[13] Multiple submitters
  • c.896+6823C>T Multiple submitters
  • c.897-14T>C Multiple submitters myofibrillar myopathy 4
  • c.897-16G>C Multiple submitters myofibrillar myopathy 4
  • c.-16C>T Multiple submitters
  • c.-24+8T>C Multiple submitters dilated cardiomyopathy 1C
  • p.Ala126= Multiple submitters myofibrillar myopathy 4
  • p.Ala238= Multiple submitters Cardiovascular phenotype
  • p.Ala331= Multiple submitters Cardiovascular phenotype
  • p.Ala389= Multiple submitters Cardiovascular phenotype
  • p.Ala434Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg165Trp Multiple submitters Cardiovascular phenotype
  • p.Arg297= Multiple submitters Cardiovascular phenotype
  • p.Arg487His Multiple submitters Cardiovascular phenotype
  • p.Asn260= Multiple submitters Cardiovascular phenotype
  • p.Asp168= Multiple submitters Cardiovascular phenotype
  • p.Asp289= Multiple submitters Cardiovascular phenotype
  • p.Asp53= Multiple submitters Cardiovascular phenotype
  • p.Asp652= Multiple submitters Cardiovascular phenotype
  • p.Cys551= Multiple submitters Cardiovascular phenotype
  • p.Cys657= Multiple submitters Cardiovascular phenotype
  • p.Cys672= Multiple submitters Cardiovascular phenotype
  • p.Cys697= Multiple submitters Cardiovascular phenotype
  • p.Gly421= Multiple submitters Cardiovascular phenotype
  • p.Gly54= Multiple submitters Cardiovascular phenotype
  • p.Ile345= Multiple submitters Cardiovascular phenotype
  • p.Lys251Arg Multiple submitters Cardiovascular phenotype
  • p.Pro101Leu Multiple submitters Cardiovascular phenotype
  • p.Pro187Leu Multiple submitters myofibrillar myopathy 4
  • p.Pro192= Multiple submitters Cardiovascular phenotype
  • p.Pro481Arg Multiple submitters Cardiovascular phenotype
  • p.Pro99Ser Multiple submitters Cardiovascular phenotype
  • p.Ser432Pro Multiple submitters cardiomyopathy ⚠
  • p.Ser474= Multiple submitters Cardiovascular phenotype
  • p.Thr141= Multiple submitters myofibrillar myopathy 4
  • p.Thr300= Multiple submitters myofibrillar myopathy 4
  • p.Thr338= Multiple submitters Cardiovascular phenotype
  • p.Thr462= Multiple submitters Cardiovascular phenotype
  • p.Thr507= Multiple submitters myofibrillar myopathy 4
  • p.Thr91= Multiple submitters Cardiovascular phenotype
  • p.Tyr445= Multiple submitters Cardiovascular phenotype
  • p.Tyr710= Multiple submitters myofibrillar myopathy 4
  • p.Val118Met Multiple submitters Cardiovascular phenotype
  • p.Val55Ile Multiple submitters Cardiovascular phenotype
  • c.896+6694del No assertion criteria

Likely benign 375

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

Uncertain significance 831

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