Sugi Variant

Sugi Variant/INTS8

INTS8 — 123 ClinVar variants

All ClinVar germline INTS8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 7 Benign · 1 Benign/Likely benign · 13 Likely benign · 99 Uncertain significance

Full INTS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 lean, ClinVar uncertain 69

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

Predictors split 20

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

All INTS8 variants

Pathogenic 2

  • p.Asp298Gly No assertion criteria neurodevelopmental disorder with cerebellar hypoplasia and spasticity
  • p.Glu973_Leu975del No assertion criteria neurodevelopmental disorder with cerebellar hypoplasia and spasticity

Likely pathogenic 1

  • p.Arg359Ter Single submitter neurodevelopmental disorder with cerebellar hypoplasia and spasticity

Benign 7

  • c.1018-11G>A Multiple submitters neurodevelopmental disorder with cerebellar hypoplasia and spasticity
  • p.Ala898= Multiple submitters neurodevelopmental disorder with cerebellar hypoplasia and spasticity
  • p.His922= Multiple submitters
  • p.Ser710= Multiple submitters neurodevelopmental disorder with cerebellar hypoplasia and spasticity
  • c.1752+7A>G Single submitter
  • c.131-9A>G No assertion criteria INTS8-related disorder
  • c.2077-8T>C No assertion criteria INTS8-related disorder

Benign/Likely benign 1

Likely benign 13

Uncertain significance 99