Sugi Variant

Sugi Variant/TACR3

TACR3 — 178 ClinVar variants

All ClinVar germline TACR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

9 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 7 Conflicting · 13 Benign · 5 Benign/Likely benign · 40 Likely benign · 93 Uncertain significance

Full TACR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 58

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

Predictors split 15

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

All TACR3 variants

Pathogenic 9

  • p.Pro353Ser Multiple submitters hypogonadotropic hypogonadism
  • p.Trp275Ter Multiple submitters TACR3-related disorder
  • c.548+2T>C Single submitter
  • p.Ala7fs Single submitter hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Gln335Ter Single submitter hypogonadotropic hypogonadism
  • p.Leu124_Val125insTer Single submitter
  • p.Trp331Ter Single submitter
  • p.Gly93Asp No assertion criteria hypogonadotropic hypogonadism 11 with or without anosmia ⚠
  • p.Tyr256His No assertion criteria hypogonadotropic hypogonadism 11 with or without anosmia

Pathogenic/Likely pathogenic 2

  • c.737+1G>A Multiple submitters hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Trp343Ter Multiple submitters hypogonadotropic hypogonadism 11 with or without anosmia

Likely pathogenic 9

Conflicting classifications of pathogenicity 7

  • c.-20G>A Single submitter hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Arg441Cys Single submitter hypogonadotropic hypogonadism 11 with or without anosmia ⚠
  • p.Asn416Tyr Single submitter hypogonadotropic hypogonadism 11 with or without anosmia ⚠
  • p.Asp46= Single submitter hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Met409Val Single submitter hypogonadotropic hypogonadism 11 with or without anosmia ⚠
  • p.Pro193= Single submitter hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Thr430= Single submitter hypogonadotropic hypogonadism 11 with or without anosmia

Benign 13

Benign/Likely benign 5

  • p.Ala449Thr Multiple submitters hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Lys286Arg Multiple submitters hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Ser448= Multiple submitters hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Thr307= Multiple submitters hypogonadotropic hypogonadism 11 with or without anosmia
  • p.Val98= Multiple submitters

Likely benign 40

Uncertain significance 93