Sugi Variant

Sugi Variant/KY

KY — 173 ClinVar variants

All ClinVar germline KY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

5 Pathogenic · 5 Likely pathogenic · 5 Conflicting · 22 Benign · 4 Benign/Likely benign · 38 Likely benign · 94 Uncertain significance

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

⚑ Evidence disagreements 89

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 agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 79

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

Predictors split 5

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

All KY variants

Pathogenic 5

  • p.Gln161Ter Single submitter myofibrillar myopathy 7
  • p.Val18fs Single submitter myofibrillar myopathy 7
  • p.Arg139Ter No assertion criteria myofibrillar myopathy 7
  • p.Thr358fs No assertion criteria myofibrillar myopathy 7
  • p.Tyr135Ter No assertion criteria myofibrillar myopathy 7

Likely pathogenic 5

  • c.710+2T>C Single submitter KY-related disorders
  • p.Ala26fs Single submitter myofibrillar myopathy 7
  • p.Thr215fs Single submitter myofibrillar myopathy 7
  • p.Trp137fs Single submitter myofibrillar myopathy 7
  • p.Ile416Asn No assertion criteria myofibrillar myopathy 7

Conflicting classifications of pathogenicity 5

Benign 22

Benign/Likely benign 4

Likely benign 38

Uncertain significance 94