Sugi Variant

Sugi Variant/DMRT1

DMRT1 — 142 ClinVar variants

All ClinVar germline DMRT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

9 Likely pathogenic · 1 Conflicting · 35 Benign · 1 Benign/Likely benign · 27 Likely benign · 69 Uncertain significance

Full DMRT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 50

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

Predictors split 21

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

All DMRT1 variants

Likely pathogenic 9

  • c.968-11_977del Single submitter male infertility
  • p.Ala142Val Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
  • p.Arg111Met Single submitter 46,XY sex reversal 4
  • p.Cys105Trp Single submitter
  • p.Gly132Asp Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
  • p.Met115Lys Single submitter Non-obstructive azoospermia
  • p.Ser328Gly Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
  • p.Ser50fs Single submitter male infertility
  • p.Tyr293Ter Single submitter male infertility

Conflicting classifications of pathogenicity 1

Benign 35

Benign/Likely benign 1

Likely benign 27

Uncertain significance 69