Sugi Variant

Sugi Variant/SMG9

SMG9 — 124 ClinVar variants

All ClinVar germline SMG9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

7 Pathogenic · 10 Likely pathogenic · 1 Conflicting · 4 Benign · 3 Benign/Likely benign · 25 Likely benign · 74 Uncertain significance

Full SMG9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 48

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

Predictors split 24

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

All SMG9 variants

Pathogenic 7

  • p.Asn251fs Single submitter Fetal anomalies with a likely genetic cause
  • p.Gln476Ter Single submitter neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
  • p.Glu263Ter Single submitter Inborn genetic diseases
  • p.Ile66fs Single submitter neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
  • p.Gln393Ter No assertion criteria heart and brain malformation syndrome
  • p.Trp503Ser No assertion criteria heart and brain malformation syndrome
  • p.Val184Ala No assertion criteria neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies ⚠

Likely pathogenic 10

Conflicting classifications of pathogenicity 1

  • c.701+4A>G Single submitter SMG9-related disorder

Benign 4

Benign/Likely benign 3

Likely benign 25

Uncertain significance 74