Sugi Variant

Sugi Variant/TECRL

TECRL — 391 ClinVar variants

All ClinVar germline TECRL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →

11 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 15 Conflicting · 34 Benign · 3 Benign/Likely benign · 117 Likely benign · 199 Uncertain significance

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

⚑ Evidence disagreements 181

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 10

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

Predictors lean, ClinVar uncertain 136

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 35

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

All TECRL variants

Pathogenic 11

  • p.Cys189Ter Multiple submitters Cardiovascular phenotype
  • p.Trp225Ter Multiple submitters Cardiovascular phenotype
  • c.918+3A>G Single submitter TECRL-related disorder
  • p.Arg47fs Single submitter Cardiovascular phenotype
  • p.Gly246Ter Single submitter Cardiovascular phenotype
  • p.Leu137fs Single submitter catecholaminergic polymorphic ventricular tachycardia 3
  • p.Leu148fs Single submitter Cardiovascular phenotype
  • p.Lys172fs Single submitter Cardiovascular phenotype
  • p.Lys206Ter Single submitter Cardiovascular phenotype
  • p.Thr69fs Single submitter Cardiovascular phenotype
  • p.Trp99Ter No assertion criteria catecholaminergic polymorphic ventricular tachycardia

Pathogenic/Likely pathogenic 3

  • c.331+1G>A Multiple submitters catecholaminergic polymorphic ventricular tachycardia 3
  • p.Arg196Ter Multiple submitters Cardiovascular phenotype
  • p.Gln68Ter Multiple submitters Cardiovascular phenotype

Likely pathogenic 9

  • c.730+1G>A Multiple submitters Cardiovascular phenotype
  • c.435+1_435+97del Single submitter Cardiovascular phenotype
  • c.436-2A>G Single submitter Cardiovascular phenotype
  • c.658-2A>G Single submitter Cardiovascular phenotype
  • c.658-2del Single submitter Cardiovascular phenotype
  • c.774+1G>C Single submitter
  • c.833-1G>C Single submitter Cardiovascular phenotype
  • p.Arg248fs Single submitter catecholaminergic polymorphic ventricular tachycardia 3
  • p.Lys91fs Single submitter catecholaminergic polymorphic ventricular tachycardia 3

Conflicting classifications of pathogenicity 15

Benign 34

Benign/Likely benign 3

Likely benign 117

Uncertain significance 199