Sugi Variant

Sugi Variant/AMER1

AMER1 — 611 ClinVar variants

All ClinVar germline AMER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 338 flagged for review →

32 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 24 Conflicting · 66 Benign · 30 Benign/Likely benign · 134 Likely benign · 313 Uncertain significance

Full AMER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 338

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 20

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

Predictors lean, ClinVar uncertain 187

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 187

Predictors split 131

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

All AMER1 variants

Pathogenic 32

Pathogenic/Likely pathogenic 2

  • p.Arg497fs Multiple submitters cleft palate
  • p.Arg497Ter Multiple submitters osteopathia striata with cranial sclerosis

Likely pathogenic 10

  • p.Arg586Ter Single submitter osteopathia striata with cranial sclerosis
  • p.Arg601Ter Single submitter
  • p.Glu291Ter Single submitter osteopathia striata with cranial sclerosis
  • p.Glu462fs Single submitter osteopathia striata with cranial sclerosis
  • p.Gly369fs Single submitter osteopathia striata with cranial sclerosis
  • p.Gly89fs Single submitter
  • p.Pro450fs Single submitter
  • p.Tyr526fs Single submitter osteopathia striata with cranial sclerosis
  • p.Val214fs Single submitter colorectal cancer
  • p.Glu219fs No assertion criteria osteopathia striata with cranial sclerosis

Conflicting classifications of pathogenicity 24

Benign 66

Benign/Likely benign 30

Likely benign 134

Uncertain significance 313

Showing the top 300 by review status; the full set is in the sitemap.