Sugi Variant

Sugi Variant/KMT2C

KMT2C — 2680 ClinVar variants

All ClinVar germline KMT2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 649 flagged for review →

99 Pathogenic · 12 Pathogenic/Likely pathogenic · 81 Likely pathogenic · 127 Conflicting · 192 Benign · 123 Benign/Likely benign · 796 Likely benign · 1250 Uncertain significance

Full KMT2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 649

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 vs ClinVar 7

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 54

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 552

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 552

Predictors split 32

The independent predictors disagree with each other — read with care.

All KMT2C variants

Pathogenic 99

Pathogenic/Likely pathogenic 12

Likely pathogenic 81

Conflicting classifications of pathogenicity 127

Benign 192

Benign/Likely benign 123

Likely benign 796

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1250

Showing the top 300 by review status; the full set is in the sitemap.