COMMD7 — 32 ClinVar variants
All ClinVar germline COMMD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Benign · 1 Likely benign · 30 Uncertain significance
Full COMMD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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.
- COMMD7 p.Ala121Val Uncertain significance Single submitter
- COMMD7 p.Ala14Ser Uncertain significance Single submitter
- COMMD7 p.Ala32Asp Uncertain significance Single submitter
- COMMD7 p.Arg122Gly Uncertain significance Single submitter
- COMMD7 p.Asn168Ser Uncertain significance Single submitter
- COMMD7 p.Gln115Lys Uncertain significance Single submitter
- COMMD7 p.Gln24Arg Uncertain significance Single submitter
- COMMD7 p.Glu149Lys Uncertain significance Single submitter
- COMMD7 p.Glu43Gly Uncertain significance Single submitter
- COMMD7 p.Glu48Asp Uncertain significance Single submitter
- COMMD7 p.Leu120Pro Uncertain significance Single submitter
- COMMD7 p.Lys90Arg Uncertain significance Single submitter
- COMMD7 p.Met189Thr Uncertain significance Single submitter
- COMMD7 p.Thr107Ala Uncertain significance Single submitter
- COMMD7 p.Val164Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- COMMD7 p.Ala117Val Uncertain significance Single submitter
- COMMD7 p.Ala94Val Uncertain significance Single submitter
- COMMD7 p.Asp18Asn Uncertain significance Single submitter
- COMMD7 p.Gln21Pro Uncertain significance Single submitter
- COMMD7 p.Glu138Ala Uncertain significance Single submitter
- COMMD7 p.Glu171Lys Uncertain significance Single submitter
- COMMD7 p.Gly167Val Uncertain significance Single submitter
- COMMD7 p.Gly66Cys Uncertain significance Single submitter
- COMMD7 p.Leu158Val Uncertain significance Single submitter
- COMMD7 p.Leu41Val Uncertain significance Single submitter
- COMMD7 p.Met189Val Uncertain significance Single submitter
- COMMD7 p.Pro180Ser Uncertain significance Single submitter
- COMMD7 p.Ser145Phe Uncertain significance Single submitter
- COMMD7 p.Thr59Ile Uncertain significance Single submitter
- COMMD7 p.Val47Met Uncertain significance Single submitter
All COMMD7 variants
Benign 1
- c.526+3G>A Multiple submitters
Likely benign 1
- p.Arg122Gln Single submitter
Uncertain significance 30
- p.Ala117Val Single submitter ⚠
- p.Ala121Val Single submitter ⚠
- p.Ala14Ser Single submitter ⚠
- p.Ala32Asp Single submitter ⚠
- p.Ala94Val Single submitter ⚠
- p.Arg122Gly Single submitter ⚠
- p.Asn168Ser Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Gln115Lys Single submitter ⚠
- p.Gln21Pro Single submitter ⚠
- p.Gln24Arg Single submitter ⚠
- p.Glu138Ala Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu171Lys Single submitter ⚠
- p.Glu43Gly Single submitter ⚠
- p.Glu48Asp Single submitter ⚠
- p.Gly167Val Single submitter ⚠
- p.Gly66Cys Single submitter ⚠
- p.Leu120Pro Single submitter ⚠
- p.Leu158Val Single submitter ⚠
- p.Leu41Val Single submitter ⚠
- p.Lys90Arg Single submitter ⚠
- p.Met189Thr Single submitter ⚠
- p.Met189Val Single submitter ⚠
- p.Pro180Ser Single submitter ⚠
- p.Ser145Phe Single submitter ⚠
- p.Thr107Ala Single submitter ⚠
- p.Thr59Ile Single submitter ⚠
- p.Val164Ile Single submitter ⚠
- p.Val47Met Single submitter ⚠