Sugi Variant

Sugi Variant/ASPH

ASPH — 252 ClinVar variants

All ClinVar germline ASPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

12 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 2 Conflicting · 62 Benign · 1 Benign/Likely benign · 60 Likely benign · 101 Uncertain significance

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

⚑ Evidence disagreements 95

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 54

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

Predictors split 40

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

All ASPH variants

Pathogenic 12

  • p.Asn637fs Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Asn639fs Single submitter
  • p.Gly518Ter Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Leu465fs Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Trp575Ter Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Trp594Ter Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Trp631Ter Single submitter
  • p.Tyr494Ter Single submitter
  • c.322+12720A>C No assertion criteria exercise-induced malignant hyperthermia
  • c.323-11779G>C No assertion criteria malignant hyperthermia of anesthesia
  • p.Asn618fs No assertion criteria facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Trp57Ter No assertion criteria facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

Pathogenic/Likely pathogenic 3

  • p.Trp728Ter Multiple submitters facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Tyr565Ter Multiple submitters facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • c.2127-2del No assertion criteria facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

Likely pathogenic 11

  • p.Arg735Trp Multiple submitters Thoracic aortic aneurysm or dissection
  • c.1149+1G>A Single submitter
  • c.1150-1G>A Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • c.1764+1G>C Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Asp720fs Single submitter
  • p.Glu542= Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Glu591Ter Single submitter
  • p.Lys391fs Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Trp560Ter Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Tyr583fs Single submitter facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
  • p.Gly714fs No assertion criteria

Conflicting classifications of pathogenicity 2

Benign 62

Benign/Likely benign 1

Likely benign 60

Uncertain significance 101