DRC8 — 8 ClinVar variants
All ClinVar germline DRC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
1 Benign · 1 Likely benign · 6 Uncertain significance
Full DRC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All DRC8 variants
Benign 1
- p.Phe73= Multiple submitters
Likely benign 1
- p.Arg131His Single submitter
Uncertain significance 6
- p.Ala13Thr Single submitter ⚠
- p.Asp152Val Single submitter
- p.Asp6Asn Single submitter
- p.Asp6Tyr Single submitter ⚠
- p.Ile141Thr Single submitter
- p.Val36Leu Single submitter ⚠