Sugi Variant

Sugi Variant/TNNI3K

TNNI3K — 1375 ClinVar variants

All ClinVar germline TNNI3K variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 639 flagged for review →

2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 36 Conflicting · 62 Benign · 24 Benign/Likely benign · 395 Likely benign · 853 Uncertain significance

Full TNNI3K gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 639

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 agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 403

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 403

Predictors split 217

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 217

All TNNI3K variants

Pathogenic/Likely pathogenic 2

Likely pathogenic 3

  • p.Gly526Asp Single submitter atrial conduction disease
  • p.Leu513Pro Single submitter Arrhythmogenic right ventricular dysplasia 2
  • p.Thr539Ala Single submitter atrial conduction disease

Conflicting classifications of pathogenicity 36

Benign 62

Benign/Likely benign 24

Likely benign 395

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

Uncertain significance 853

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