KMT5C — 9 ClinVar variants
All ClinVar germline KMT5C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
3 Benign · 1 Likely benign · 5 Uncertain significance
Full KMT5C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All KMT5C variants
Likely benign 1
- c.277-4C>A Single submitter
Uncertain significance 5
- p.Arg30Cys Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Asn226Tyr Single submitter ⚠
- p.Pro328His Single submitter ⚠
- p.Ser276Asn Single submitter ⚠