COMMD1 — 25 ClinVar variants
All ClinVar germline COMMD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 24 Uncertain significance
Full COMMD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COMMD1 p.Asn190Asp Uncertain significance Single submitter
- COMMD1 p.Gln131His Uncertain significance Single submitter
- COMMD1 p.Gln137Glu Uncertain significance Single submitter
- COMMD1 p.Glu5Asp Uncertain significance Single submitter
- COMMD1 p.Gly121Asp Uncertain significance Single submitter
- COMMD1 p.His101Gln Uncertain significance Single submitter
- COMMD1 p.Ile138Met Uncertain significance Single submitter
- COMMD1 p.Ile62Val Uncertain significance Single submitter
- COMMD1 p.Leu172Pro Uncertain significance Single submitter
- COMMD1 p.Leu39Pro Uncertain significance Single submitter
- COMMD1 p.Lys10Glu Uncertain significance Single submitter
- COMMD1 p.Pro11Leu Uncertain significance Single submitter
- COMMD1 p.Pro28Leu Uncertain significance Single submitter
- COMMD1 p.Ser61Ala Uncertain significance Single submitter
- COMMD1 p.Thr77Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- COMMD1 p.Asn111Ile Uncertain significance Single submitter
- COMMD1 p.Glu148Asp Uncertain significance Single submitter
- COMMD1 p.Glu33Val Uncertain significance Single submitter
- COMMD1 p.His25Arg Uncertain significance Single submitter
- COMMD1 p.Leu6Ile Uncertain significance Single submitter
- COMMD1 p.Leu6Phe Uncertain significance Single submitter
- COMMD1 p.Lys129Thr Uncertain significance Single submitter
- COMMD1 p.Ser183Ile Uncertain significance Single submitter
- COMMD1 p.Thr80Ile Uncertain significance Single submitter
All COMMD1 variants
Likely benign 1
- p.Ile145Met Single submitter
Uncertain significance 24
- p.Asn111Ile Single submitter ⚠
- p.Asn190Asp Single submitter ⚠
- p.Gln131His Single submitter ⚠
- p.Gln137Glu Single submitter ⚠
- p.Glu148Asp Single submitter ⚠
- p.Glu33Val Single submitter ⚠
- p.Glu5Asp Single submitter ⚠
- p.Gly121Asp Single submitter ⚠
- p.His101Gln Single submitter ⚠
- p.His25Arg Single submitter ⚠
- p.Ile138Met Single submitter ⚠
- p.Ile62Val Single submitter ⚠
- p.Leu172Pro Single submitter ⚠
- p.Leu39Pro Single submitter ⚠
- p.Leu6Ile Single submitter ⚠
- p.Leu6Phe Single submitter ⚠
- p.Lys10Glu Single submitter ⚠
- p.Lys129Thr Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Ser183Ile Single submitter ⚠
- p.Ser61Ala Single submitter ⚠
- p.Thr77Ala Single submitter ⚠
- p.Thr80Ile Single submitter ⚠