Sugi Variant

Sugi Variant/MCM9

MCM9 — 204 ClinVar variants

All ClinVar germline MCM9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 3 Conflicting · 11 Benign · 2 Benign/Likely benign · 27 Likely benign · 150 Uncertain significance

Full MCM9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 2

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

Predictors lean, ClinVar uncertain 124

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 MCM9 variants

Pathogenic 3

  • c.1732+2T>C Single submitter 46,XX ovarian dysgenesis-short stature syndrome
  • p.Glu225fs Single submitter 46,XX ovarian dysgenesis-short stature syndrome
  • p.Glu495Ter No assertion criteria 46,XX ovarian dysgenesis-short stature syndrome

Pathogenic/Likely pathogenic 2

  • c.1151-1G>A Multiple submitters 46,XX ovarian dysgenesis-short stature syndrome
  • p.Arg132Ter Multiple submitters 46,XX ovarian dysgenesis-short stature syndrome

Likely pathogenic 6

  • c.1529-7C>G Single submitter 46,XX ovarian dysgenesis-short stature syndrome
  • p.Arg548fs Single submitter
  • p.Gln252Ter Single submitter 46,XX ovarian dysgenesis-short stature syndrome
  • p.Leu47fs Single submitter 46,XX ovarian dysgenesis-short stature syndrome
  • p.Trp519Ter Single submitter 46,XX ovarian dysgenesis-short stature syndrome
  • c.304+1G>A No assertion criteria

Conflicting classifications of pathogenicity 3

Benign 11

Benign/Likely benign 2

  • p.Arg424= Multiple submitters 46,XX ovarian dysgenesis-short stature syndrome
  • p.Thr133Ala Multiple submitters

Likely benign 27

Uncertain significance 150