Sugi Variant

Sugi Variant/TRAK1

TRAK1 — 382 ClinVar variants

All ClinVar germline TRAK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 7 Conflicting · 26 Benign · 14 Benign/Likely benign · 117 Likely benign · 210 Uncertain significance

Full TRAK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 197

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 6

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

Predicted LoF vs a conflicting call 1

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 139

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

Predictors split 51

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

All TRAK1 variants

Pathogenic 5

  • c.286+1G>A Single submitter
  • p.Glu471fs Single submitter Inborn genetic diseases
  • p.His21fs Single submitter
  • c.287-2A>C No assertion criteria developmental and epileptic encephalopathy, 68
  • c.287-2A>G No assertion criteria developmental and epileptic encephalopathy, 68

Pathogenic/Likely pathogenic 1

  • p.His587fs No assertion criteria developmental and epileptic encephalopathy, 68

Likely pathogenic 2

  • c.91+1G>T Single submitter developmental and epileptic encephalopathy, 68
  • p.Gly18fs Single submitter developmental and epileptic encephalopathy, 68

Conflicting classifications of pathogenicity 7

Benign 26

Benign/Likely benign 14

Likely benign 117

Uncertain significance 210