Sugi Variant

Sugi Variant/MEGF10

MEGF10 — 1143 ClinVar variants

All ClinVar germline MEGF10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 466 flagged for review →

32 Pathogenic · 3 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 65 Conflicting · 50 Benign · 13 Benign/Likely benign · 379 Likely benign · 573 Uncertain significance

Full MEGF10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 466

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 18

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

Predictors lean, ClinVar uncertain 343

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 343

Predictors split 105

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

All MEGF10 variants

Pathogenic 32

Pathogenic/Likely pathogenic 3

  • p.Cys774Arg Multiple submitters MEGF10-related myopathy
  • p.Glu398Ter Multiple submitters MEGF10-related myopathy
  • p.Trp520fs Multiple submitters MEGF10-related myopathy

Likely pathogenic 28

Conflicting classifications of pathogenicity 65

Benign 50

Benign/Likely benign 13

  • c.116+10T>C Multiple submitters MEGF10-related myopathy
  • c.117-5_117-4insC Multiple submitters MEGF10-related myopathy
  • c.2104+20A>C Multiple submitters MEGF10-related myopathy
  • c.218+17C>G Multiple submitters MEGF10-related myopathy
  • c.-19+8943A>G Multiple submitters MEGF10-related myopathy
  • p.Ala874= Multiple submitters MEGF10-related myopathy
  • p.Asn328= Multiple submitters MEGF10-related myopathy
  • p.Asn678= Multiple submitters MEGF10-related myopathy
  • p.Cys733= Multiple submitters MEGF10-related myopathy
  • p.Glu1063= Multiple submitters MEGF10-related myopathy
  • p.Pro1054= Multiple submitters MEGF10-related myopathy
  • p.Pro692= Multiple submitters MEGF10-related myopathy
  • p.Thr58= Multiple submitters MEGF10-related myopathy

Likely benign 379

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 573

Showing the top 300 by review status; the full set is in the sitemap.