CHCHD1 — 15 ClinVar variants
All ClinVar germline CHCHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
1 Likely benign · 14 Uncertain significance
Full CHCHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHCHD1 p.Ala83Val Uncertain significance Single submitter
- CHCHD1 p.Asn24Ser Uncertain significance Single submitter
- CHCHD1 p.Gln90Arg Uncertain significance Single submitter
- CHCHD1 p.Glu95Lys Uncertain significance Single submitter
- CHCHD1 p.Ile70Asn Uncertain significance Single submitter
- CHCHD1 p.Lys114Asn Uncertain significance Single submitter
- CHCHD1 p.Met86Val Uncertain significance Single submitter
- CHCHD1 p.Ser98Thr Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CHCHD1 p.Arg32Pro Uncertain significance Single submitter
- CHCHD1 p.Arg7Trp Uncertain significance Single submitter
- CHCHD1 p.Arg9Leu Uncertain significance Single submitter
- CHCHD1 p.Leu10Arg Uncertain significance Single submitter
- CHCHD1 p.Pro4Leu Uncertain significance Single submitter
- CHCHD1 p.Pro4Ser Uncertain significance Single submitter
- CHCHD1 p.Ser50Ala Likely benign Single submitter
All CHCHD1 variants
Likely benign 1
- p.Ser50Ala Single submitter ⚠
Uncertain significance 14
- p.Ala83Val Single submitter ⚠
- p.Arg32Pro Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Arg9Leu Single submitter ⚠
- p.Asn24Ser Single submitter ⚠
- p.Gln90Arg Single submitter ⚠
- p.Glu95Lys Single submitter ⚠
- p.Ile70Asn Single submitter ⚠
- p.Leu10Arg Single submitter ⚠
- p.Lys114Asn Single submitter ⚠
- p.Met86Val Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Ser98Thr Single submitter ⚠