Sugi Variant

Sugi Variant/RFX7

RFX7 — 375 ClinVar variants

All ClinVar germline RFX7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 3 Conflicting · 8 Benign · 79 Likely benign · 265 Uncertain significance

Full RFX7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 168

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 2

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

Predictors lean, ClinVar uncertain 154

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 154

Predictors split 12

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

All RFX7 variants

Pathogenic 5

  • p.Pro1028Leu Multiple submitters intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Cys909fs Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Leu823Ter Single submitter
  • p.Ser1011fs No assertion criteria intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Tyr906Ter No assertion criteria intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities

Pathogenic/Likely pathogenic 2

  • p.Pro1028Ser Multiple submitters RFX7-related disorder
  • p.Val820fs Multiple submitters intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities

Likely pathogenic 13

  • p.Gln746Ter Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Glu706fs Single submitter
  • p.Glu745Ter Single submitter Inborn genetic diseases
  • p.His16fs Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Lys490fs Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Met467fs Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Met894fs Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Phe777fs Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
  • p.Pro1015Ser Single submitter
  • p.Thr684_Ile685insTer Single submitter RFX7-related disorder
  • p.Thr947fs Single submitter Inborn genetic diseases
  • p.Tyr429Ter Single submitter
  • p.Val34fs Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities

Conflicting classifications of pathogenicity 3

  • p.948PT[10] Single submitter neurodevelopmental disorder
  • p.Ala529Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1029Val Single submitter intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities ⚠

Benign 8

Likely benign 79

Uncertain significance 265