Sugi Variant

Sugi Variant/ARHGAP29

ARHGAP29 — 227 ClinVar variants

All ClinVar germline ARHGAP29 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

7 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 3 Benign · 5 Benign/Likely benign · 44 Likely benign · 164 Uncertain significance

Full ARHGAP29 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

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 1

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

Predicted LoF vs a conflicting call 2

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 138

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

Predictors split 18

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

All ARHGAP29 variants

Pathogenic 7

  • c.1920+1G>A Single submitter Nonsyndromic cleft lip with or without cleft palate
  • c.2109+1G>A Single submitter Nonsyndromic cleft lip with or without cleft palate
  • c.698-1G>C Single submitter Nonsyndromic cleft lip with or without cleft palate
  • p.Arg647Ter Single submitter
  • p.Ile851fs Single submitter
  • p.Ser492Ter Single submitter Nonsyndromic cleft lip with or without cleft palate
  • p.Ser552Pro Single submitter ARHGAP29-related disorder ⚠

Likely pathogenic 1

  • c.1682-12A>G Single submitter Non-syndromic orofacial cleft

Conflicting classifications of pathogenicity 3

Benign 3

Benign/Likely benign 5

Likely benign 44

Uncertain significance 164