Sugi Variant

Sugi Variant/MYOT

MYOT — 515 ClinVar variants

All ClinVar germline MYOT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →

2 Pathogenic · 3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 42 Conflicting · 28 Benign · 14 Benign/Likely benign · 130 Likely benign · 292 Uncertain significance

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

⚑ Evidence disagreements 233

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 4

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 176

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 176

Predictors split 44

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

All MYOT variants

Pathogenic 2

Pathogenic/Likely pathogenic 3

Likely pathogenic 4

  • c.531+1G>A Single submitter myofibrillar myopathy 3
  • p.Gln212Ter Single submitter myofibrillar myopathy 3
  • p.Gln371Ter Single submitter myofibrillar myopathy 3
  • p.Glu49fs No assertion criteria myofibrillar myopathy 3

Conflicting classifications of pathogenicity 42

Benign 28

Benign/Likely benign 14

  • c.1190+12A>G Multiple submitters myofibrillar myopathy 3
  • c.1190+7T>C Multiple submitters myofibrillar myopathy 3
  • p.Ala115Thr Multiple submitters myofibrillar myopathy 3
  • p.Asn327= Multiple submitters myofibrillar myopathy 3
  • p.Asn80= Multiple submitters myofibrillar myopathy 3
  • p.Gln50Arg Multiple submitters myofibrillar myopathy 3
  • p.Gln74Lys Multiple submitters myofibrillar myopathy 3
  • p.Glu149Gln Multiple submitters myofibrillar myopathy 3
  • p.Gly191Arg Multiple submitters myofibrillar myopathy 3
  • p.Gly206Asp Multiple submitters myofibrillar myopathy 3
  • p.Ser210= Multiple submitters myofibrillar myopathy 3
  • p.Ser260= Multiple submitters myofibrillar myopathy 3
  • p.Ser274= Multiple submitters myofibrillar myopathy 3
  • p.Val336= Multiple submitters myofibrillar myopathy 3

Likely benign 130

Uncertain significance 292