Sugi Variant

Sugi Variant/MCM3AP

MCM3AP — 1598 ClinVar variants

All ClinVar germline MCM3AP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 695 flagged for review →

76 Pathogenic · 3 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 29 Conflicting · 83 Benign · 20 Benign/Likely benign · 630 Likely benign · 727 Uncertain significance

Full MCM3AP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 695

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 596

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 596

Predictors split 81

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

All MCM3AP variants

Pathogenic 76

Pathogenic/Likely pathogenic 3

  • p.Arg1760fs Multiple submitters peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
  • p.Pro979fs Multiple submitters Inborn genetic diseases
  • p.Ser183fs Multiple submitters

Likely pathogenic 30

Conflicting classifications of pathogenicity 29

Benign 83

Benign/Likely benign 20

Likely benign 630

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

Uncertain significance 727

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