Sugi Variant

Sugi Variant/SIM1

SIM1 — 468 ClinVar variants

All ClinVar germline SIM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 248 flagged for review →

4 Pathogenic · 9 Likely pathogenic · 10 Conflicting · 27 Benign · 8 Benign/Likely benign · 112 Likely benign · 298 Uncertain significance

Full SIM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 248

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 agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 209

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 209

Predictors split 35

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

All SIM1 variants

Pathogenic 4

Likely pathogenic 9

Conflicting classifications of pathogenicity 10

  • p.Ala484= Single submitter obesity due to SIM1 deficiency
  • p.Asp707His Single submitter obesity due to SIM1 deficiency ⚠
  • p.Gly621Ser Single submitter Inborn genetic diseases ⚠
  • p.His268= Single submitter obesity due to SIM1 deficiency
  • p.His523= Single submitter obesity due to SIM1 deficiency
  • p.Ile128Thr Single submitter monogenic diabetes ⚠
  • p.Met574Val Single submitter Inborn genetic diseases ⚠
  • p.Phe93= Single submitter obesity due to SIM1 deficiency
  • p.Val151Gly Single submitter Inborn genetic diseases
  • p.Val208= Single submitter obesity due to SIM1 deficiency

Benign 27

Benign/Likely benign 8

  • c.176-14C>T Multiple submitters
  • c.457+19T>C Multiple submitters
  • p.Asn764= Multiple submitters obesity due to SIM1 deficiency
  • p.Gly700= Multiple submitters obesity due to SIM1 deficiency
  • p.Thr361Ile Multiple submitters obesity due to SIM1 deficiency
  • p.Thr412= Multiple submitters obesity due to SIM1 deficiency
  • p.Thr653= Multiple submitters obesity due to SIM1 deficiency
  • p.Val94= Multiple submitters

Likely benign 112

Uncertain significance 298