Sugi Variant

Sugi Variant/TTI2

TTI2 — 134 ClinVar variants

All ClinVar germline TTI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

7 Pathogenic · 2 Likely pathogenic · 7 Conflicting · 6 Benign · 2 Benign/Likely benign · 32 Likely benign · 78 Uncertain significance

Full TTI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 75

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 1

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

Predictors agree, ClinVar conflicts 5

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 57

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

Predictors split 11

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

All TTI2 variants

Pathogenic 7

  • p.Asp317Val Single submitter TTI2-related disorder
  • p.Glu8fs Single submitter
  • p.Pro367Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser230_Trp231insTer Single submitter Inborn genetic diseases
  • p.Ile436Asn No assertion criteria severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  • p.Leu180Pro No assertion criteria severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  • p.Leu192Pro No assertion criteria severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Likely pathogenic 2

  • c.1115+1G>A Single submitter severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  • c.1115+2T>C Single submitter severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Conflicting classifications of pathogenicity 7

Benign 6

  • c.-99-31C>T Multiple submitters severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  • p.Arg344Gln Multiple submitters
  • p.Asn46= Multiple submitters severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  • p.Glu63Gly Multiple submitters severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
  • p.Leu241= Multiple submitters
  • c.-100+1G>A Single submitter severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Benign/Likely benign 2

Likely benign 32

Uncertain significance 78