Sugi Variant

Sugi Variant/TTI1

TTI1 — 240 ClinVar variants

All ClinVar germline TTI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 190 flagged for review →

4 Pathogenic · 7 Likely pathogenic · 4 Benign · 1 Benign/Likely benign · 24 Likely benign · 200 Uncertain significance

Full TTI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 190

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 lean, ClinVar uncertain 160

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 160

Predictors split 29

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

All TTI1 variants

Pathogenic 4

  • c.2998+2T>C Single submitter Severe intellectual disability
  • c.2302+1G>T No assertion criteria neurodevelopmental disorder with microcephaly and movement abnormalities
  • p.Leu767Ser No assertion criteria neurodevelopmental disorder with microcephaly and movement abnormalities ⚠
  • p.Leu993Arg No assertion criteria neurodevelopmental disorder with microcephaly and movement abnormalities

Likely pathogenic 7

  • p.Ala671Thr Single submitter neurodevelopmental disorder with microcephaly and movement abnormalities
  • p.Arg36Ter Single submitter neurodevelopmental disorder
  • p.Asp921Asn Single submitter Abnormal brain morphology ⚠
  • p.Glu76fs Single submitter neurodevelopmental disorder with microcephaly and movement abnormalities
  • p.Ser838Leu Single submitter Severe intellectual disability ⚠
  • p.His424Arg No assertion criteria neurodevelopmental disorder with microcephaly and movement abnormalities ⚠
  • p.Leu997Pro No assertion criteria

Benign 4

Benign/Likely benign 1

Likely benign 24

Uncertain significance 200