Sugi Variant

Sugi Variant/RIT1

RIT1 — 401 ClinVar variants

All ClinVar germline RIT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →

13 Pathogenic · 15 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 22 Conflicting · 15 Benign · 3 Benign/Likely benign · 135 Likely benign · 196 Uncertain significance

Full RIT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 186

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 14

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

Predicted LoF vs a conflicting call 3

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 116

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

Predictors split 53

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

All RIT1 variants

Pathogenic 13

Pathogenic/Likely pathogenic 15

  • p.Ala57Gly Multiple submitters RIT1-related disorder ⚠
  • p.Ala77Gly Multiple submitters Cardiovascular phenotype
  • p.Ala77Pro Multiple submitters Noonan syndrome 8
  • p.Ala77Ser Multiple submitters RIT1-related disorder
  • p.Ala77Thr Multiple submitters RIT1-related disorder
  • p.Ala84Val Multiple submitters RIT1-related disorder
  • p.Arg122Leu Multiple submitters RIT1-related disorder ⚠
  • p.Asp87His Multiple submitters Noonan syndrome and Noonan-related syndrome
  • p.Glu81Gln Multiple submitters RIT1-related disorder
  • p.Glu81Gly Multiple submitters Noonan syndrome and Noonan-related syndrome
  • p.Gly31Arg Multiple submitters Noonan syndrome 1
  • p.Lys23Gln Multiple submitters Cardiovascular phenotype
  • p.Met90Ile Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
  • p.Met90Thr Multiple submitters Noonan syndrome 8 ⚠
  • p.Phe82Leu Multiple submitters congenital heart disease

Likely pathogenic 2

  • p.Asp87Ala Single submitter Noonan syndrome 8
  • p.Asp87Asn Single submitter Cardiovascular phenotype

Conflicting classifications of pathogenicity 22

Benign 15

Benign/Likely benign 3

Likely benign 135

Uncertain significance 196