Sugi Variant

Sugi Variant/ISCU

ISCU — 195 ClinVar variants

All ClinVar germline ISCU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 32 Benign · 6 Benign/Likely benign · 89 Likely benign · 64 Uncertain significance

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

⚑ Evidence disagreements 55

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 46

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

Predictors split 8

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

All ISCU variants

Pathogenic 1

Likely pathogenic 1

  • p.Gly50Glu Single submitter hereditary myopathy with lactic acidosis due to ISCU deficiency

Conflicting classifications of pathogenicity 2

  • p.Ala4Pro Single submitter hereditary myopathy with lactic acidosis due to ISCU deficiency ⚠
  • p.Leu18Met Single submitter Inborn genetic diseases ⚠

Benign 32

Benign/Likely benign 6

  • c.114+17dup Multiple submitters hereditary myopathy with lactic acidosis due to ISCU deficiency
  • c.229-5T>C Multiple submitters
  • c.419-162C>T Multiple submitters hereditary myopathy with lactic acidosis due to ISCU deficiency
  • p.Lys37Arg Multiple submitters
  • p.Phe7Cys Multiple submitters hereditary myopathy with lactic acidosis due to ISCU deficiency
  • p.Phe7Val Multiple submitters hereditary myopathy with lactic acidosis due to ISCU deficiency

Likely benign 89

Uncertain significance 64