Sugi Variant

Sugi Variant/TPM1

TPM1 — 1034 ClinVar variants

All ClinVar germline TPM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 375 flagged for review →

9 Pathogenic · 7 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 92 Conflicting · 58 Benign · 25 Benign/Likely benign · 337 Likely benign · 469 Uncertain significance

Full TPM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 375

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 11

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

Predictors agree, ClinVar conflicts 38

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

Predictors lean, ClinVar uncertain 221

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 221

Predictors split 105

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

All TPM1 variants

Pathogenic 9

Pathogenic/Likely pathogenic 7

  • p.Ala63Val Multiple submitters hypertrophic cardiomyopathy 3 ⚠
  • p.Arg160His Multiple submitters TPM1-related disorder ⚠
  • p.Asp159Asn Multiple submitters TPM1-related disorder
  • p.Glu192Lys Multiple submitters TPM1-related disorder
  • p.Glu98Lys Multiple submitters hypertrophic cardiomyopathy 3
  • p.Ser215Leu Multiple submitters Cardiovascular phenotype
  • p.Val95Ala Multiple submitters Cardiovascular phenotype

Likely pathogenic 37

Conflicting classifications of pathogenicity 92

Benign 58

Benign/Likely benign 25

Likely benign 337

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

Uncertain significance 469

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