Sugi Variant

Sugi Variant/GNRH1

GNRH1 — 44 ClinVar variants

All ClinVar germline GNRH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 6 Conflicting · 5 Benign · 7 Likely benign · 22 Uncertain significance

Full GNRH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 14

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 3

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

Predictors lean, ClinVar uncertain 8

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

Predictors split 3

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

All GNRH1 variants

Pathogenic 2

  • p.Cys21fs Single submitter
  • p.Leu7fs No assertion criteria hypogonadotropic hypogonadism 12 with or without anosmia

Likely pathogenic 2

  • p.Arg60fs Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • p.Leu30fs Single submitter hypogonadotropic hypogonadism 12 with or without anosmia

Conflicting classifications of pathogenicity 6

  • c.237+8A>C Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • p.Arg31Cys Single submitter hypogonadotropic hypogonadism ⚠
  • p.Arg31His Single submitter hypogonadotropic hypogonadism ⚠
  • p.Gln59= Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • p.Glu47Asp Single submitter hypogonadotropic hypogonadism 12 with or without anosmia ⚠
  • p.Lys90Asn Single submitter ⚠

Benign 5

  • c.141+40T>G Multiple submitters
  • c.141+85A>G Multiple submitters
  • p.Glu80Gln Multiple submitters
  • p.Phe61= Multiple submitters hypogonadotropic hypogonadism 12 with or without anosmia
  • p.Trp16Ser Multiple submitters hypogonadotropic hypogonadism 12 with or without anosmia

Likely benign 7

Uncertain significance 22

  • c.238-12T>C Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-1-110A>G Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-1-140G>A Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-1-5C>T Single submitter
  • c.-1198G>A Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-1316C>T Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-1624G>A Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-2+194C>A Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-2+59G>T Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • c.-984C>G Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • p.Arg60Cys Single submitter ⚠
  • p.Cys17Arg Single submitter ⚠
  • p.Glu86Gly Single submitter ⚠
  • p.Gly29Glu Single submitter ⚠
  • p.His25Asp Single submitter ⚠
  • p.Ile48Arg Single submitter amenorrhea ⚠
  • p.Ile48Thr Single submitter ⚠
  • p.Leu8del Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • p.Lys2Glu Single submitter ⚠
  • p.Ser70= Single submitter hypogonadotropic hypogonadism 12 with or without anosmia
  • p.Thr65Met Single submitter ⚠
  • p.Val18Met Single submitter ⚠