CHCHD7 — 21 ClinVar variants
All ClinVar germline CHCHD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
6 Likely benign · 15 Uncertain significance
Full CHCHD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHCHD7 p.Leu42Phe Uncertain significance Single submitter
- CHCHD7 p.Leu77Phe Uncertain significance Single submitter
- CHCHD7 p.Met83Thr Uncertain significance Single submitter
- CHCHD7 p.Thr24Ile Uncertain significance Single submitter
- CHCHD7 p.Thr39Ile Uncertain significance Single submitter
- CHCHD7 p.Val63Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CHCHD7 p.Arg36Gly Uncertain significance Single submitter
- CHCHD7 p.Asp28Tyr Uncertain significance Single submitter
- CHCHD7 p.Ile54Phe Uncertain significance Single submitter
- CHCHD7 p.Leu27Val Uncertain significance Single submitter
- CHCHD7 p.Thr69Met Uncertain significance Single submitter
- CHCHD7 p.Tyr32Cys Uncertain significance Single submitter
All CHCHD7 variants
Likely benign 6
- c.-17+1046G>C Single submitter
- p.Asn31= Single submitter
- p.Ile54Val Single submitter
- p.Ser23= Single submitter
- p.Ser3Leu Single submitter
- p.Val55Met Single submitter
Uncertain significance 15
- c.-17+1017A>G Single submitter
- c.-17+1036C>G Single submitter
- p.Arg36Gly Single submitter ⚠
- p.Asp21His Single submitter
- p.Asp28Tyr Single submitter ⚠
- p.Ile54Phe Single submitter ⚠
- p.Leu27Val Single submitter ⚠
- p.Leu42Phe Single submitter ⚠
- p.Leu77Phe Single submitter ⚠
- p.Met83Thr Single submitter ⚠
- p.Thr24Ile Single submitter ⚠
- p.Thr39Ile Single submitter ⚠
- p.Thr69Met Single submitter ⚠
- p.Tyr32Cys Single submitter ⚠
- p.Val63Met Single submitter ⚠