DCTN2 — 24 ClinVar variants
All ClinVar germline DCTN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Conflicting · 2 Benign · 1 Likely benign · 20 Uncertain significance
Full DCTN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DCTN2 p.Ala162Gly Uncertain significance Single submitter
- DCTN2 p.Ala383Thr Uncertain significance Single submitter
- DCTN2 p.Arg332Ile Uncertain significance Single submitter
- DCTN2 p.Asp168Val Uncertain significance Single submitter
- DCTN2 p.Asp216Asn Uncertain significance Single submitter
- DCTN2 p.Asp216Glu Uncertain significance Single submitter
- DCTN2 p.Gln265Lys Uncertain significance Single submitter
- DCTN2 p.Glu82Asp Uncertain significance Single submitter
- DCTN2 p.Lys188Thr Uncertain significance Single submitter
- DCTN2 p.Thr376Lys Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- DCTN2 p.Ala7Ser Uncertain significance Single submitter
- DCTN2 p.Arg379Cys Conflicting Single submitter
- DCTN2 p.Arg395Gln Uncertain significance Single submitter
- DCTN2 p.Ile12Val Uncertain significance Single submitter
- DCTN2 p.Ile322Asn Uncertain significance Single submitter
- DCTN2 p.Ile73Val Uncertain significance Single submitter
- DCTN2 p.Leu264Phe Uncertain significance Single submitter
- DCTN2 p.Leu382Val Uncertain significance Single submitter
- DCTN2 p.Ser191Leu Uncertain significance Single submitter
- DCTN2 p.Val261Ala Benign Single submitter
-
DCTN2 p.His108Tyr
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
All DCTN2 variants
Conflicting classifications of pathogenicity 1
- p.Arg379Cys Single submitter ⚠
Benign 2
- p.Lys398Gln Single submitter
- p.Val261Ala Single submitter ⚠
Likely benign 1
- p.Ala225Thr Single submitter
Uncertain significance 20
- c.1119+7G>A Single submitter
- p.Ala162Gly Single submitter ⚠
- p.Ala383Thr Single submitter ⚠
- p.Ala7Ser Single submitter ⚠
- p.Arg332Ile Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Asp168Val Single submitter ⚠
- p.Asp216Asn Single submitter ⚠
- p.Asp216Glu Single submitter ⚠
- p.Gln265Lys Single submitter ⚠
- p.Glu82Asp Single submitter ⚠
- p.Ile12Val Single submitter ⚠
- p.Ile322Asn Single submitter ⚠
- p.Ile73Val Single submitter ⚠
- p.Leu264Phe Single submitter ⚠
- p.Leu382Val Single submitter ⚠
- p.Lys188Thr Single submitter ⚠
- p.Ser191Leu Single submitter ⚠
- p.Thr376Lys Single submitter ⚠
- p.His108Tyr No assertion criteria Charcot-Marie-Tooth disease ⚠