DRC5 — 38 ClinVar variants
All ClinVar germline DRC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
2 Likely benign · 36 Uncertain significance
Full DRC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DRC5 p.Ala351Asp Uncertain significance Single submitter
- DRC5 p.Arg133Pro Uncertain significance Single submitter
- DRC5 p.Arg185Gly Uncertain significance Single submitter
- DRC5 p.Arg207Gln Uncertain significance Single submitter
- DRC5 p.Arg60Gln Uncertain significance Single submitter
- DRC5 p.Arg62Leu Uncertain significance Single submitter
- DRC5 p.Gly431Arg Uncertain significance Single submitter
- DRC5 p.Ile177Asn Uncertain significance Single submitter
- DRC5 p.Ile65Met Uncertain significance Single submitter
- DRC5 p.Leu164Pro Uncertain significance Single submitter
- DRC5 p.Leu420Arg Uncertain significance Single submitter
- DRC5 p.Lys39Arg Uncertain significance Single submitter
- DRC5 p.Met154Thr Uncertain significance Single submitter
- DRC5 p.Phe91Ser Uncertain significance Single submitter
- DRC5 p.Pro208Leu Uncertain significance Single submitter
- DRC5 p.Thr224Ile Uncertain significance Single submitter
- DRC5 p.Tyr130Cys Uncertain significance Single submitter
- DRC5 p.Val5Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- DRC5 p.Ala381Thr Uncertain significance Single submitter
- DRC5 p.Ala385Gly Uncertain significance Single submitter
- DRC5 p.Arg133His Uncertain significance Single submitter
- DRC5 p.Arg158Gln Uncertain significance Single submitter
- DRC5 p.Arg185Trp Uncertain significance Single submitter
- DRC5 p.Arg478His Uncertain significance Single submitter
- DRC5 p.Arg59Cys Uncertain significance Single submitter
- DRC5 p.Arg62Cys Uncertain significance Single submitter
- DRC5 p.Asp313His Uncertain significance Single submitter
- DRC5 p.Glu463Lys Uncertain significance Single submitter
- DRC5 p.Gly218Arg Uncertain significance Single submitter
- DRC5 p.Gly253Ser Uncertain significance Single submitter
- DRC5 p.Ile125Val Uncertain significance Single submitter
- DRC5 p.Ile423Phe Uncertain significance Single submitter
- DRC5 p.Leu37Phe Uncertain significance Single submitter
- DRC5 p.Pro307Gln Uncertain significance Single submitter
- DRC5 p.Thr394Met Uncertain significance Single submitter
- DRC5 p.Trp258Gly Uncertain significance Single submitter
-
DRC5 p.Glu310Lys
Likely benign
No assertion criteria
TCTE1-related disorder
All DRC5 variants
Likely benign 2
- p.Glu310Lys No assertion criteria TCTE1-related disorder ⚠
- p.Leu183Phe No assertion criteria TCTE1-related disorder
Uncertain significance 36
- p.Ala351Asp Single submitter ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala385Gly Single submitter ⚠
- p.Arg133His Single submitter ⚠
- p.Arg133Pro Single submitter ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg185Gly Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg207Gln Single submitter ⚠
- p.Arg478His Single submitter ⚠
- p.Arg59Cys Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Arg62Leu Single submitter ⚠
- p.Asp313His Single submitter ⚠
- p.Glu463Lys Single submitter ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly253Ser Single submitter ⚠
- p.Gly431Arg Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile177Asn Single submitter ⚠
- p.Ile423Phe Single submitter ⚠
- p.Ile65Met Single submitter ⚠
- p.Leu164Pro Single submitter ⚠
- p.Leu37Phe Single submitter ⚠
- p.Leu420Arg Single submitter ⚠
- p.Lys39Arg Single submitter ⚠
- p.Met154Thr Single submitter ⚠
- p.Phe91Ser Single submitter ⚠
- p.Pro208Leu Single submitter ⚠
- p.Pro307Gln Single submitter ⚠
- p.Thr224Ile Single submitter ⚠
- p.Thr394Met Single submitter ⚠
- p.Trp258Gly Single submitter ⚠
- p.Tyr130Cys Single submitter ⚠
- p.Val5Ile Single submitter ⚠