Sugi Variant

Sugi Variant/SRY

SRY — 73 ClinVar variants

All ClinVar germline SRY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →

30 Pathogenic · 15 Likely pathogenic · 1 Benign · 1 Benign/Likely benign · 3 Likely benign · 23 Uncertain significance

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

⚑ Evidence disagreements 25

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 lean, ClinVar uncertain 18

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

Predictors split 5

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

All SRY variants

Pathogenic 30

Likely pathogenic 15

Benign 1

  • p.Ser190Arg No assertion criteria 46 XY differences of sex development

Benign/Likely benign 1

  • p.Ser155= Multiple submitters 46,XY sex reversal 1

Likely benign 3

Uncertain significance 23