DMC1 — 37 ClinVar variants
All ClinVar germline DMC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
2 Pathogenic · 3 Likely pathogenic · 1 Benign · 1 Likely benign · 30 Uncertain significance
Full DMC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMC1 p.Ala227Thr Uncertain significance Single submitter
- DMC1 p.Arg166His Uncertain significance Single submitter
- DMC1 p.Arg176Cys Uncertain significance Single submitter
- DMC1 p.Arg236Leu Uncertain significance Single submitter
- DMC1 p.Asn187Lys Uncertain significance Single submitter
- DMC1 p.Gln14His Uncertain significance Single submitter
- DMC1 p.Gln244Lys Uncertain significance Single submitter
- DMC1 p.Gly104Arg Uncertain significance Single submitter
- DMC1 p.Gly44Glu Uncertain significance Single submitter
- DMC1 p.Ile159Thr Uncertain significance Single submitter
- DMC1 p.Lys155Met Uncertain significance Single submitter
- DMC1 p.Met249Ile Uncertain significance Single submitter
- DMC1 p.Phe13Leu Uncertain significance Single submitter
- DMC1 p.Phe165Val Uncertain significance Single submitter
- DMC1 p.Pro284Leu Uncertain significance Single submitter
-
DMC1 p.Asp160Gly
Uncertain significance
No assertion criteria
Cryptozoospermia
- DMC1 p.Asp36Asn Uncertain significance No assertion criteria
Predictors split 15
The independent predictors disagree with each other — read with care.
-
DMC1 p.Met200Val
Benign
Multiple submitters
primary ovarian failure
- DMC1 p.Ala329Thr Uncertain significance Single submitter
- DMC1 p.Arg176His Uncertain significance Single submitter
- DMC1 p.Asp180Gly Uncertain significance Single submitter
- DMC1 p.Gly147Val Uncertain significance Single submitter
- DMC1 p.Ile101Val Uncertain significance Single submitter
- DMC1 p.Ile330Leu Uncertain significance Single submitter
- DMC1 p.Ile37Val Uncertain significance Single submitter
- DMC1 p.Leu189Phe Uncertain significance Single submitter
- DMC1 p.Lys74Asn Uncertain significance Single submitter
- DMC1 p.Ser19Tyr Uncertain significance Single submitter
- DMC1 p.Thr102Ala Uncertain significance Single submitter
- DMC1 p.Thr327Ile Uncertain significance Single submitter
- DMC1 p.Val70Ile Uncertain significance Single submitter
-
DMC1 p.Tyr194Cys
Likely pathogenic
No assertion criteria
Non-obstructive azoospermia
All DMC1 variants
Pathogenic 2
- p.Pro287His No assertion criteria azoospermia
- p.Thr122Ala No assertion criteria azoospermia
Likely pathogenic 3
- p.Thr164Ala No assertion criteria Non-obstructive azoospermia
- p.Thr55Ile No assertion criteria Non-obstructive azoospermia
- p.Tyr194Cys No assertion criteria Non-obstructive azoospermia ⚠
Benign 1
- p.Met200Val Multiple submitters primary ovarian failure ⚠
Likely benign 1
- p.His295= Single submitter
Uncertain significance 30
- p.Ala227Thr Single submitter ⚠
- p.Ala329Thr Single submitter ⚠
- p.Arg166His Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Arg236Leu Single submitter ⚠
- p.Asn187Lys Single submitter ⚠
- p.Asp180Gly Single submitter ⚠
- p.Gln14His Single submitter ⚠
- p.Gln244Lys Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Gly147Val Single submitter ⚠
- p.Gly44Glu Single submitter ⚠
- p.Ile101Val Single submitter ⚠
- p.Ile159Thr Single submitter ⚠
- p.Ile330Leu Single submitter ⚠
- p.Ile37Val Single submitter ⚠
- p.Leu189Phe Single submitter ⚠
- p.Lys155Met Single submitter ⚠
- p.Lys74Asn Single submitter ⚠
- p.Met249Ile Single submitter ⚠
- p.Phe13Leu Single submitter ⚠
- p.Phe165Val Single submitter ⚠
- p.Pro284Leu Single submitter ⚠
- p.Ser19Tyr Single submitter ⚠
- p.Thr102Ala Single submitter ⚠
- p.Thr327Ile Single submitter ⚠
- p.Val70Ile Single submitter ⚠
- p.Asp160Gly No assertion criteria Cryptozoospermia ⚠
- p.Asp36Asn No assertion criteria ⚠