Sugi Variant

Sugi Variant/LEPR

LEPR — 534 ClinVar variants

All ClinVar germline LEPR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 30 Conflicting · 53 Benign · 8 Benign/Likely benign · 164 Likely benign · 241 Uncertain significance

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

⚑ Evidence disagreements 225

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 5

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

Predictors agree, ClinVar conflicts 18

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

Predictors lean, ClinVar uncertain 175

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 175

Predictors split 27

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

All LEPR variants

Pathogenic 16

Pathogenic/Likely pathogenic 1

  • p.Tyr46Ter Multiple submitters obesity due to leptin receptor gene deficiency

Likely pathogenic 21

Conflicting classifications of pathogenicity 30

  • c.1286-11G>A Single submitter
  • c.371-9T>A Single submitter obesity due to leptin receptor gene deficiency
  • p.Ala1139= Single submitter obesity due to leptin receptor gene deficiency
  • p.Ala605Ser Single submitter ⚠
  • p.Arg612His Single submitter Early onset severe obesity ⚠
  • p.Asn1026= Single submitter obesity due to leptin receptor gene deficiency
  • p.Asn682= Single submitter obesity due to leptin receptor gene deficiency
  • p.Asp124Gly Single submitter monogenic diabetes ⚠
  • p.Cys99Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln307His Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Glu192Ala Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Gly179Asp Single submitter LEPR-related disorder ⚠
  • p.His12= Single submitter obesity due to leptin receptor gene deficiency
  • p.Ile298Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile340Val Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Ile900Val Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Leu471= Single submitter obesity due to leptin receptor gene deficiency
  • p.Met1160Thr Single submitter monogenic diabetes ⚠
  • p.Ser1007Cys Single submitter monogenic diabetes ⚠
  • p.Ser1014Cys Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Ser790= Single submitter obesity due to leptin receptor gene deficiency
  • p.Thr1083Ala Single submitter monogenic diabetes ⚠
  • p.Thr973Asn Single submitter Inborn genetic diseases ⚠
  • p.Tyr411Cys Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Val198= Single submitter obesity due to leptin receptor gene deficiency
  • p.Val220Ile Single submitter monogenic diabetes ⚠
  • p.Val344Ile Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Val724Ala Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Val741Met Single submitter obesity due to leptin receptor gene deficiency ⚠
  • p.Val754Met Single submitter obesity due to leptin receptor gene deficiency ⚠

Benign 53

Benign/Likely benign 8

Likely benign 164

Uncertain significance 241