Sugi Variant

Sugi Variant/FIGLA

FIGLA — 82 ClinVar variants

All ClinVar germline FIGLA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

4 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 20 Benign · 1 Benign/Likely benign · 12 Likely benign · 42 Uncertain significance

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

⚑ Evidence disagreements 38

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 1

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

Predictors lean, ClinVar uncertain 33

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

Predictors split 4

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

All FIGLA variants

Pathogenic 4

  • p.Asn140del No assertion criteria premature ovarian failure 6
  • p.Gly6fs No assertion criteria premature ovarian failure 6
  • p.Met1Thr No assertion criteria premature ovarian failure 6
  • p.Tyr113Ter No assertion criteria premature ovarian failure 6

Likely pathogenic 2

  • p.Ser55Ter Single submitter premature ovarian failure 6
  • p.Leu107Phe No assertion criteria Genetic non-acquired premature ovarian failure

Conflicting classifications of pathogenicity 1

Benign 20

Benign/Likely benign 1

  • c.*53A>C Multiple submitters premature ovarian failure 6

Likely benign 12

Uncertain significance 42