Sugi Variant

Sugi Variant/MICU1

MICU1 — 348 ClinVar variants

All ClinVar germline MICU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →

23 Pathogenic · 6 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 3 Conflicting · 32 Benign · 5 Benign/Likely benign · 149 Likely benign · 115 Uncertain significance

Full MICU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 91

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 70

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

Predictors split 20

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

All MICU1 variants

Pathogenic 23

Pathogenic/Likely pathogenic 6

  • c.161+1G>A Multiple submitters proximal myopathy with extrapyramidal signs
  • c.735+1G>A Multiple submitters proximal myopathy with extrapyramidal signs
  • p.Ala14fs Multiple submitters MICU1-related disorder
  • p.Arg129Pro Multiple submitters MICU1-related disorder
  • p.Arg154Ter Multiple submitters proximal myopathy with extrapyramidal signs
  • p.Arg185Ter Multiple submitters MICU1-related disorder

Likely pathogenic 15

Conflicting classifications of pathogenicity 3

  • p.Asp64Asn Single submitter Inborn genetic diseases ⚠
  • p.Gln183Ter Single submitter MICU1-related disorder
  • p.Met1Val Single submitter proximal myopathy with extrapyramidal signs

Benign 32

Benign/Likely benign 5

Likely benign 149

Uncertain significance 115