Sugi Variant

Sugi Variant/MLIP

MLIP — 62 ClinVar variants

All ClinVar germline MLIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

7 Pathogenic · 5 Likely pathogenic · 1 Conflicting · 7 Benign · 1 Benign/Likely benign · 9 Likely benign · 32 Uncertain significance

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

⚑ Evidence disagreements 26

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 1

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

Predictors lean, ClinVar uncertain 24

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

Predictors split 1

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

All MLIP variants

Pathogenic 7

  • p.Arg844Ter Single submitter intellectual developmental disorder, autosomal dominant 64
  • p.Lys609Ter Single submitter myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.Gln762Ter No assertion criteria myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.His580fs No assertion criteria myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.Leu758fs No assertion criteria myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.Phe611fs No assertion criteria myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.Ser815fs No assertion criteria myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis

Likely pathogenic 5

  • c.2589+1G>A Single submitter
  • p.Glu635fs Single submitter myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.Gly405_Val406insTer Single submitter myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.Val832fs Single submitter myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
  • p.Ser818fs No assertion criteria MLIP-related disorder

Conflicting classifications of pathogenicity 1

Benign 7

Benign/Likely benign 1

Likely benign 9

Uncertain significance 32