DMRTA1 — 90 ClinVar variants

All ClinVar germline DMRTA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

2 Benign · 8 Likely benign · 80 Uncertain significance

Full DMRTA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 lean, ClinVar uncertain 48

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

Predictors split 33

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

All DMRTA1 variants

Benign 2

p.Gly40Ala Multiple submitters
p.Pro468= Multiple submitters

Likely benign 8

p.Arg3Trp Multiple submitters ⚠
p.Gly12Ser Single submitter
p.Gly177Ser Single submitter
p.Gly186Ser Single submitter
p.Gly264Arg Single submitter
p.Gly427Ser Single submitter
p.Ile490Val Single submitter
p.Lys367Arg Single submitter

Uncertain significance 80

p.Ala130Thr Single submitter ⚠
p.Ala138Thr Single submitter ⚠
p.Ala141Val Single submitter ⚠
p.Ala153Ser Single submitter ⚠
p.Ala20Thr Single submitter ⚠
p.Ala27Val Single submitter ⚠
p.Ala314Val Single submitter ⚠
p.Ala34Thr Single submitter ⚠
p.Ala386Asp Single submitter ⚠
p.Ala386Thr Single submitter ⚠
p.Ala440Val Single submitter ⚠
p.Ala60Pro Single submitter ⚠
p.Ala63Ser Single submitter ⚠
p.Arg101Pro Single submitter ⚠
p.Arg119Pro Single submitter ⚠
p.Arg158Ser Single submitter ⚠
p.Arg253Gly Single submitter ⚠
p.Arg325Lys Single submitter ⚠
p.Arg344Gln Single submitter ⚠
p.Arg344Trp Single submitter ⚠
p.Arg350Trp Single submitter ⚠
p.Arg467Trp Single submitter ⚠
p.Asn373Asp Single submitter ⚠
p.Asp120Asn Single submitter ⚠
p.Cys492Ser Single submitter ⚠
p.Gln148Lys Single submitter ⚠
p.Glu383Gln Single submitter ⚠
p.Gly170Ser Single submitter ⚠
p.Gly175Cys Single submitter ⚠
p.Gly191Arg Single submitter ⚠
p.Gly197Ser Single submitter ⚠
p.Gly235Arg Single submitter ⚠
p.Gly354Glu Single submitter ⚠
p.Gly401Ala Single submitter ⚠
p.Gly40Glu Single submitter ⚠
p.Gly459Ala Single submitter ⚠
p.Gly459Trp Single submitter ⚠
p.Gly7Ala Single submitter ⚠
p.Gly85Asp Single submitter ⚠
p.His281Tyr Single submitter ⚠
p.His369Arg Single submitter ⚠
p.Ile360Thr Single submitter ⚠
p.Leu109Arg Single submitter ⚠
p.Leu156Pro Single submitter ⚠
p.Leu196Met Single submitter ⚠
p.Leu403Val Single submitter ⚠
p.Leu425Val Single submitter ⚠
p.Phe210Val Single submitter ⚠
p.Pro168Arg Single submitter ⚠
p.Pro292Ser Single submitter ⚠
p.Pro30Leu Single submitter ⚠
p.Pro320Leu Single submitter ⚠
p.Pro326Ser Single submitter ⚠
p.Pro44Ser Single submitter ⚠
p.Pro75Thr Single submitter ⚠
p.Pro92Leu Single submitter ⚠
p.Ser231Pro Single submitter ⚠
p.Ser266Phe Single submitter ⚠
p.Ser291Cys Single submitter ⚠
p.Ser318Arg Single submitter ⚠
p.Ser324Leu Single submitter ⚠
p.Ser32Pro Single submitter ⚠
p.Ser442Tyr Single submitter ⚠
p.Ser449Cys Single submitter ⚠
p.Ser485Phe Single submitter ⚠
p.Ser52Thr Single submitter ⚠
p.Ser82Gly Single submitter ⚠
p.Thr127Ile Single submitter ⚠
p.Thr321Lys Single submitter ⚠
p.Thr385Ile Single submitter ⚠
p.Thr402Ala Single submitter ⚠
p.Thr68Ala Single submitter ⚠
p.Thr94Met Single submitter ⚠
p.Trp166Leu Single submitter ⚠
p.Tyr441Cys Single submitter ⚠
p.Tyr483Cys Single submitter ⚠
p.Val135Ile Single submitter ⚠
p.Val25Met Single submitter ⚠
p.Val43Ala Single submitter ⚠
p.Val43Asp Single submitter ⚠