Sugi Variant

Sugi Variant/MCM8

MCM8 — 150 ClinVar variants

All ClinVar germline MCM8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 1 Conflicting · 11 Benign · 2 Benign/Likely benign · 11 Likely benign · 108 Uncertain significance

Full MCM8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 103

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 lean, ClinVar uncertain 81

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

Predictors split 22

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

All MCM8 variants

Pathogenic 8

  • p.Lys118fs Multiple submitters premature ovarian failure 10
  • p.Ala623fs Single submitter Joubert syndrome 6
  • p.Arg309Ter Single submitter premature ovarian failure 10
  • p.Met579fs Single submitter
  • c.1954-1G>A No assertion criteria premature ovarian failure 10
  • p.Arg687Ter No assertion criteria premature ovarian failure 10
  • p.Leu491fs No assertion criteria premature ovarian failure 10
  • p.Pro149Arg No assertion criteria premature ovarian failure 10

Pathogenic/Likely pathogenic 1

  • p.Ile93fs Multiple submitters MCM8-related disorders

Likely pathogenic 8

Conflicting classifications of pathogenicity 1

  • p.Arg345Ter Single submitter premature ovarian failure 10

Benign 11

Benign/Likely benign 2

Likely benign 11

Uncertain significance 108