COMMD8 — 31 ClinVar variants
All ClinVar germline COMMD8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
5 Likely benign · 26 Uncertain significance
Full COMMD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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.
- COMMD8 p.Trp122Gly Uncertain significance Multiple submitters
- COMMD8 p.Arg11Gln Uncertain significance Single submitter
- COMMD8 p.Glu108Asp Uncertain significance Single submitter
- COMMD8 p.Gly6Arg Uncertain significance Single submitter
- COMMD8 p.His144Arg Uncertain significance Single submitter
- COMMD8 p.Ile133Val Uncertain significance Single submitter
- COMMD8 p.Lys60Asn Uncertain significance Single submitter
- COMMD8 p.Lys60Glu Uncertain significance Single submitter
- COMMD8 p.Pro3Ala Uncertain significance Single submitter
- COMMD8 p.Pro3Ser Uncertain significance Single submitter
- COMMD8 p.Pro8Ser Uncertain significance Single submitter
- COMMD8 p.Ser113Phe Uncertain significance Single submitter
- COMMD8 p.Thr7Arg Uncertain significance Single submitter
- COMMD8 p.Thr7Ser Uncertain significance Single submitter
- COMMD8 p.Val94Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- COMMD8 p.Asp131Glu Uncertain significance Single submitter
- COMMD8 p.Gln116Arg Uncertain significance Single submitter
- COMMD8 p.Glu164Gly Uncertain significance Single submitter
- COMMD8 p.Glu47Val Uncertain significance Single submitter
- COMMD8 p.Gly30Asp Uncertain significance Single submitter
- COMMD8 p.His144Tyr Uncertain significance Single submitter
- COMMD8 p.Leu70Ser Uncertain significance Single submitter
- COMMD8 p.Leu9Trp Uncertain significance Single submitter
- COMMD8 p.Pro16Gln Uncertain significance Single submitter
- COMMD8 p.Ser96Ile Uncertain significance Single submitter
All COMMD8 variants
Likely benign 5
- p.Ala35Thr Single submitter
- p.Arg137Gln Single submitter
- p.Ile158Val Single submitter
- p.Pro71Ser Single submitter
- p.Pro8Leu Single submitter
Uncertain significance 26
- p.Trp122Gly Multiple submitters ⚠
- p.Arg11Gln Single submitter ⚠
- p.Asp131Glu Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Glu108Asp Single submitter ⚠
- p.Glu164Gly Single submitter ⚠
- p.Glu47Val Single submitter ⚠
- p.Gly30Asp Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.His144Arg Single submitter ⚠
- p.His144Tyr Single submitter ⚠
- p.Ile133Val Single submitter ⚠
- p.Leu70Ser Single submitter ⚠
- p.Leu9Ter Single submitter
- p.Leu9Trp Single submitter ⚠
- p.Lys60Asn Single submitter ⚠
- p.Lys60Glu Single submitter ⚠
- p.Pro16Gln Single submitter ⚠
- p.Pro3Ala Single submitter ⚠
- p.Pro3Ser Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Ser113Phe Single submitter ⚠
- p.Ser96Ile Single submitter ⚠
- p.Thr7Arg Single submitter ⚠
- p.Thr7Ser Single submitter ⚠
- p.Val94Met Single submitter ⚠