Sugi Variant

Sugi Variant/KISS1R

KISS1R — 205 ClinVar variants

All ClinVar germline KISS1R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

8 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 4 Conflicting · 14 Benign · 9 Benign/Likely benign · 42 Likely benign · 117 Uncertain significance

Full KISS1R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 105

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 2

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 82

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

Predictors split 18

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

All KISS1R variants

Pathogenic 8

Pathogenic/Likely pathogenic 3

  • p.Leu102Pro Multiple submitters hypogonadotropic hypogonadism 8 with or without anosmia ⚠
  • p.Ter399Arg Multiple submitters hypogonadotropic hypogonadism
  • p.Tyr323Ter Multiple submitters urogenital tract malformation

Likely pathogenic 8

Conflicting classifications of pathogenicity 4

Benign 14

Benign/Likely benign 9

  • c.739-3del Multiple submitters
  • p.Ala189Thr Multiple submitters
  • p.Ala385= Multiple submitters central precocious puberty 1
  • p.Arg229= Multiple submitters
  • p.Gly8= Multiple submitters hypogonadotropic hypogonadism 8 with or without anosmia
  • p.Leu364His Multiple submitters hypogonadotropic hypogonadism 8 with or without anosmia
  • p.Pro97= Multiple submitters
  • p.Thr3= Multiple submitters
  • p.Thr6= Multiple submitters hypogonadotropic hypogonadism 8 with or without anosmia

Likely benign 42

Uncertain significance 117