DMRTC1 — 14 ClinVar variants
All ClinVar germline DMRTC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
14 Uncertain significance
Full DMRTC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMRTC1 p.Ala175Val Uncertain significance Single submitter
- DMRTC1 p.Arg171His Uncertain significance Single submitter
- DMRTC1 p.Asn27His Uncertain significance Single submitter
- DMRTC1 p.Asn27Ser Uncertain significance Single submitter
- DMRTC1 p.Gln45Lys Uncertain significance Single submitter
- DMRTC1 p.Glu40Lys Uncertain significance Single submitter
- DMRTC1 p.Gly159Glu Uncertain significance Single submitter
- DMRTC1 p.Gly42Arg Uncertain significance Single submitter
- DMRTC1 p.Met28Val Uncertain significance Single submitter
- DMRTC1 p.Pro100Ser Uncertain significance Single submitter
- DMRTC1 p.Pro165Ser Uncertain significance Single submitter
- DMRTC1 p.Pro168Leu Uncertain significance Single submitter
- DMRTC1 p.Thr37Ile Uncertain significance Single submitter
- DMRTC1 p.Val71Phe Uncertain significance Single submitter
All DMRTC1 variants
Uncertain significance 14
- p.Ala175Val Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Asn27His Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Gln45Lys Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Gly159Glu Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.Met28Val Single submitter ⚠
- p.Pro100Ser Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Pro168Leu Single submitter ⚠
- p.Thr37Ile Single submitter ⚠
- p.Val71Phe Single submitter ⚠