CHURC1 — 17 ClinVar variants
All ClinVar germline CHURC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Benign/Likely benign · 2 Likely benign · 14 Uncertain significance
Full CHURC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHURC1 c.-33C>T Uncertain significance Single submitter
- CHURC1 p.Cys88Phe Uncertain significance Single submitter
- CHURC1 p.Glu10Lys Uncertain significance Single submitter
- CHURC1 p.Gly92Ser Uncertain significance Single submitter
- CHURC1 p.Leu6Val Uncertain significance Single submitter
- CHURC1 p.Ser12Leu Uncertain significance Single submitter
- CHURC1 p.Val11Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All CHURC1 variants
Benign/Likely benign 1
- p.Tyr57Cys Multiple submitters
Likely benign 2
- p.Asn20Lys Multiple submitters ⚠
- c.-12G>A Single submitter
Uncertain significance 14
- c.-33C>T Single submitter ⚠
- p.Arg106Gln Single submitter
- p.Cys88Phe Single submitter ⚠
- p.Glu10Lys Single submitter ⚠
- p.Glu95Lys Single submitter
- p.Gly92Ser Single submitter ⚠
- p.Leu6Val Single submitter ⚠
- p.Leu87Met Single submitter
- p.Met86Ile Single submitter
- p.Ser12Leu Single submitter ⚠
- p.Ser99Gly Single submitter
- p.Ser99Thr Single submitter
- p.Tyr84His Single submitter
- p.Val11Ile Single submitter ⚠