MCM7 — 162 ClinVar variants

All ClinVar germline MCM7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →

6 Pathogenic · 1 Conflicting · 5 Benign · 6 Likely benign · 144 Uncertain significance

Full MCM7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 135

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 91

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

Predictors split 43

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

All MCM7 variants

Pathogenic 6

  • p.Gly259Ala Multiple submitters astigmatism ⚠
  • c.401+2dup Single submitter Multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency
  • p.Arg527Ter Single submitter Meier-Gorlin syndrome
  • p.Gln139Ter Single submitter Meier-Gorlin syndrome
  • p.Gln45Ter Single submitter Trichiasis
  • p.Tyr539Cys Single submitter Meier-Gorlin syndrome ⚠

Conflicting classifications of pathogenicity 1

Benign 5

Likely benign 6

Uncertain significance 144