Sugi Variant

Sugi Variant/FSHR

FSHR — 218 ClinVar variants

All ClinVar germline FSHR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →

14 Pathogenic · 2 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 10 Conflicting · 28 Benign · 1 Benign/Likely benign · 23 Likely benign · 121 Uncertain significance

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

⚑ Evidence disagreements 119

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 8

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 64

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

Predictors split 41

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

All FSHR variants

Pathogenic 14

  • p.Ala189fs Single submitter ovarian dysgenesis 1
  • p.Lys133Ter Single submitter
  • p.Met1Thr Single submitter amenorrhea
  • p.Ala189Val No assertion criteria ovarian dysgenesis 1 ⚠
  • p.Ala419Thr No assertion criteria ovarian dysgenesis 1 ⚠
  • p.Arg573Cys No assertion criteria ovarian dysgenesis 1 ⚠
  • p.Asn560fs No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Asp567Asn No assertion criteria ovarian hyperstimulation syndrome ⚠
  • p.Gln117Ter No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Ile545Thr No assertion criteria ovarian hyperstimulation syndrome ⚠
  • p.Pro519Thr No assertion criteria ovarian dysgenesis 1
  • p.Ser128Tyr No assertion criteria ovarian hyperstimulation syndrome
  • p.Thr449Ala No assertion criteria ovarian hyperstimulation syndrome ⚠
  • p.Thr449Ile No assertion criteria ovarian hyperstimulation syndrome ⚠

Pathogenic/Likely pathogenic 2

  • p.Phe170fs Multiple submitters ovarian dysgenesis 1
  • p.Pro587His No assertion criteria ovarian dysgenesis 1

Likely pathogenic 19

  • p.Ala419Pro Single submitter ovarian hyperstimulation syndrome
  • p.Ala462Pro Single submitter ovarian dysgenesis 1
  • p.Ala621Val Single submitter ovarian dysgenesis 1 ⚠
  • p.Gln194Ter Single submitter ovarian dysgenesis 1
  • p.Gly446Ser Single submitter
  • p.Ile374Asn Single submitter xanthinuria type I ⚠
  • p.Leu314fs Single submitter
  • p.Trp370Ter Single submitter ovarian dysgenesis 1
  • p.Ala575Val No assertion criteria ovarian dysgenesis 1
  • p.Asp224Val No assertion criteria ovarian dysgenesis 1
  • p.Glu466Lys No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Ile588Thr No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Leu125Arg No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Leu149Phe No assertion criteria ovarian hyperstimulation syndrome ⚠
  • p.Leu601Val No assertion criteria ovarian dysgenesis 1 ⚠
  • p.Pro348Arg No assertion criteria ovarian dysgenesis 1
  • p.Ser295Phe No assertion criteria Genetic non-acquired premature ovarian failure ⚠
  • p.Thr228Ile No assertion criteria Genetic non-acquired premature ovarian failure
  • p.Val221Gly No assertion criteria ovarian dysgenesis 1 ⚠

Conflicting classifications of pathogenicity 10

Benign 28

Benign/Likely benign 1

  • p.Ser201= Multiple submitters ovarian dysgenesis 1

Likely benign 23

Uncertain significance 121