Sugi Variant

Sugi Variant/ZNF148

ZNF148 — 117 ClinVar variants

All ClinVar germline ZNF148 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

5 Pathogenic · 15 Likely pathogenic · 1 Conflicting · 5 Benign · 1 Benign/Likely benign · 15 Likely benign · 75 Uncertain significance

Full ZNF148 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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.

Predictors lean, ClinVar uncertain 50

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

Predictors split 11

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

All ZNF148 variants

Pathogenic 5

  • p.Arg399fs Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Met234Ile Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Glu486Ter No assertion criteria
  • p.Ser324fs No assertion criteria global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Ser529fs No assertion criteria global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

Likely pathogenic 15

  • p.Ser397fs Multiple submitters global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • c.668-1G>A Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Asp282Gly Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies ⚠
  • p.Asp337_Leu338insTer Single submitter ZNF148-related disorder
  • p.Asp341fs Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Gln502Ter Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.His245Arg Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Ile517fs Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Leu285fs Single submitter ZNF148-related disorder
  • p.Leu390fs Single submitter
  • p.Leu80fs Single submitter ZNF148-related disorder
  • p.Lys225fs Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Ser306Ter Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Ser423Ter Single submitter global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
  • p.Tyr417Ter Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 1

Benign 5

Benign/Likely benign 1

Likely benign 15

Uncertain significance 75