DMRT3 — 120 ClinVar variants

All ClinVar germline DMRT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →

1 Likely pathogenic · 7 Benign · 11 Likely benign · 101 Uncertain significance

Full DMRT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 99

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.

DMRT3 p.Pro443Ser Likely pathogenic Single submitter
primary ovarian failure

Predictors lean, ClinVar uncertain 81

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

Predictors split 17

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

All DMRT3 variants

Likely pathogenic 1

p.Pro443Ser Single submitter primary ovarian failure ⚠

Benign 7

p.Asn261Thr Multiple submitters
p.Pro18Gln Multiple submitters
p.Pro98= Multiple submitters
p.Ser463Pro Multiple submitters
p.Glu84= Single submitter
p.Leu376= Single submitter
p.Lys272Thr Single submitter ⚠

Likely benign 11

p.Arg217Cys Multiple submitters
p.Val424Ile Multiple submitters
p.Ala112= Single submitter
p.Ala225Val Single submitter
p.Ala429Thr Single submitter
p.Asp338= Single submitter
p.Gln119Pro Single submitter
p.Pro14= Single submitter
p.Pro214= Single submitter
p.Pro351Leu Single submitter
p.Ser347Thr Single submitter

Uncertain significance 101

p.Ala103Thr Single submitter ⚠
p.Ala106Asp Single submitter ⚠
p.Ala125Pro Single submitter ⚠
p.Ala132Ser Single submitter ⚠
p.Ala300Val Single submitter ⚠
p.Arg122Cys Single submitter ⚠
p.Arg122Leu Single submitter ⚠
p.Arg217His Single submitter ⚠
p.Arg335Gln Single submitter ⚠
p.Arg367Gln Single submitter ⚠
p.Arg404Met Single submitter ⚠
p.Arg420Lys Single submitter ⚠
p.Arg466Lys Single submitter ⚠
p.Arg46His Single submitter ⚠
p.Arg66Leu Single submitter ⚠
p.Arg75His Single submitter ⚠
p.Asn261Ser Single submitter ⚠
p.Asn310Ser Single submitter ⚠
p.Asn387Ser Single submitter ⚠
p.Asp102Tyr Single submitter ⚠
p.Asp176Asn Single submitter ⚠
p.Asp440Asn Single submitter ⚠
p.Asp455Asn Single submitter ⚠
p.Asp461Asn Single submitter ⚠
p.Asp461Glu Single submitter ⚠
p.Cys223Phe Single submitter ⚠
p.Gln262His Single submitter ⚠
p.Glu156fs Single submitter
p.Glu453Lys Single submitter ⚠
p.Glu458Lys Single submitter ⚠
p.Glu63Gln Single submitter ⚠
p.Gly12Val Single submitter
p.Gly203Arg Single submitter ⚠
p.Gly237Glu Single submitter
p.Gly311Ala Single submitter ⚠
p.Gly331Glu Single submitter ⚠
p.Gly441Arg Single submitter ⚠
p.His316Tyr Single submitter ⚠
p.His44Tyr Single submitter ⚠
p.Ile59Ser Single submitter ⚠
p.Leu144Arg Single submitter ⚠
p.Leu144Val Single submitter ⚠
p.Leu148Pro Single submitter ⚠
p.Leu267Val Single submitter ⚠
p.Leu305Pro Single submitter ⚠
p.Leu318Phe Single submitter ⚠
p.Leu372Pro Single submitter ⚠
p.Leu94Val Single submitter ⚠
p.Lys185Glu Single submitter ⚠
p.Lys187Asn Single submitter ⚠
p.Lys187Glu Single submitter ⚠
p.Lys447Gln Single submitter ⚠
p.Met11Leu Single submitter ⚠
p.Met371Ile Single submitter ⚠
p.Phe190Leu Single submitter ⚠
p.Phe342Leu Single submitter ⚠
p.Pro118Leu Single submitter ⚠
p.Pro141Leu Single submitter ⚠
p.Pro141Ser Single submitter ⚠
p.Pro14Arg Single submitter ⚠
p.Pro235Leu Single submitter ⚠
p.Pro242Ser Single submitter
p.Pro251Thr Single submitter ⚠
p.Pro260Leu Single submitter ⚠
p.Pro322Arg Single submitter ⚠
p.Pro353Ser Single submitter ⚠
p.Pro357Leu Single submitter ⚠
p.Pro366Ser Single submitter ⚠
p.Pro369Leu Single submitter ⚠
p.Pro369Ser Single submitter ⚠
p.Pro410Ala Single submitter ⚠
p.Pro412Arg Single submitter ⚠
p.Pro88Ala Single submitter ⚠
p.Pro99Ala Single submitter ⚠
p.Ser116Trp Single submitter ⚠
p.Ser16Leu Single submitter ⚠
p.Ser179Arg Single submitter ⚠
p.Ser180Cys Single submitter ⚠
p.Ser194Gly Single submitter ⚠
p.Ser244Ile Single submitter ⚠
p.Ser299Phe Single submitter ⚠
p.Ser415Pro Single submitter ⚠
p.Ser421Arg Single submitter ⚠
p.Ser449Cys Single submitter ⚠
p.Ser465Cys Single submitter ⚠
p.Ser85Arg Single submitter ⚠
p.Thr175Ala Single submitter ⚠
p.Thr191Ile Single submitter ⚠
p.Thr265Met Single submitter ⚠
p.Thr339Arg Single submitter ⚠
p.Thr452Pro Single submitter ⚠
p.Thr54Ala Single submitter ⚠
p.Tyr321Cys Single submitter ⚠
p.Tyr407His Single submitter ⚠
p.Val15Gly Single submitter ⚠
p.Val183Ala Single submitter ⚠
p.Val200Met Single submitter ⚠
p.Val207Ile Single submitter ⚠
p.Val37Ile Single submitter ⚠
p.Val389Ile Single submitter ⚠
p.Val445Leu Single submitter ⚠