CMC1 — 19 ClinVar variants
All ClinVar germline CMC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
19 Uncertain significance
Full CMC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMC1 p.Ala2Ser Uncertain significance Single submitter
- CMC1 p.Arg11Thr Uncertain significance Single submitter
- CMC1 p.Arg85Met Uncertain significance Single submitter
- CMC1 p.Cys42Tyr Uncertain significance Single submitter
- CMC1 p.Cys77Gly Uncertain significance Single submitter
- CMC1 p.Glu14Lys Uncertain significance Single submitter
- CMC1 p.Glu86Asp Uncertain significance Single submitter
- CMC1 p.Leu60Trp Uncertain significance Single submitter
- CMC1 p.Leu99Arg Uncertain significance Single submitter
- CMC1 p.Leu99Pro Uncertain significance Single submitter
- CMC1 p.Met106Thr Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CMC1 p.Ala2Val Uncertain significance Single submitter
- CMC1 p.Asp37Gly Uncertain significance Single submitter
- CMC1 p.Asp4Asn Uncertain significance Single submitter
- CMC1 p.Glu76Asp Uncertain significance Single submitter
- CMC1 p.His12Arg Uncertain significance Single submitter
- CMC1 p.Lys43Arg Uncertain significance Single submitter
- CMC1 p.Lys83Gln Uncertain significance Single submitter
- CMC1 p.Met23Val Uncertain significance Single submitter
All CMC1 variants
Uncertain significance 19
- p.Ala2Ser Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg11Thr Single submitter ⚠
- p.Arg85Met Single submitter ⚠
- p.Asp37Gly Single submitter ⚠
- p.Asp4Asn Single submitter ⚠
- p.Cys42Tyr Single submitter ⚠
- p.Cys77Gly Single submitter ⚠
- p.Glu14Lys Single submitter ⚠
- p.Glu76Asp Single submitter ⚠
- p.Glu86Asp Single submitter ⚠
- p.His12Arg Single submitter ⚠
- p.Leu60Trp Single submitter ⚠
- p.Leu99Arg Single submitter ⚠
- p.Leu99Pro Single submitter ⚠
- p.Lys43Arg Single submitter ⚠
- p.Lys83Gln Single submitter ⚠
- p.Met106Thr Single submitter ⚠
- p.Met23Val Single submitter ⚠