Sugi Variant

Sugi Variant/ASCC3

ASCC3 — 374 ClinVar variants

All ClinVar germline ASCC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 262 flagged for review →

9 Pathogenic · 4 Likely pathogenic · 4 Conflicting · 8 Benign · 2 Benign/Likely benign · 61 Likely benign · 286 Uncertain significance

Full ASCC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 262

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 217

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 217

Predictors split 43

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

All ASCC3 variants

Pathogenic 9

  • p.Cys1924fs Single submitter intellectual developmental disorder, autosomal recessive 81
  • p.Arg1472Gln No assertion criteria intellectual developmental disorder, autosomal recessive 81
  • p.Arg1518His No assertion criteria intellectual developmental disorder, autosomal recessive 81
  • p.Arg1761Ter No assertion criteria intellectual developmental disorder, autosomal recessive 81
  • p.Cys1175fs No assertion criteria intellectual developmental disorder, autosomal recessive 81
  • p.Gln1211Ter No assertion criteria intellectual developmental disorder, autosomal recessive 81
  • p.Gly1652Asp No assertion criteria intellectual developmental disorder, autosomal recessive 81
  • p.Ile1662Phe No assertion criteria intellectual developmental disorder, autosomal recessive 81
  • p.Ser1564Pro No assertion criteria intellectual developmental disorder, autosomal recessive 81

Likely pathogenic 4

  • c.1597-2A>G Multiple submitters intellectual developmental disorder, autosomal recessive 81
  • c.801+1G>T Single submitter intellectual developmental disorder, autosomal recessive 81
  • c.802-2A>C Single submitter intellectual developmental disorder, autosomal recessive 81
  • p.Leu1034Ter Single submitter ASCC3-related disorder

Conflicting classifications of pathogenicity 4

  • p.Arg852Ter Single submitter congenital myopathy
  • p.His1898Arg Single submitter intellectual developmental disorder, autosomal recessive 81 ⚠
  • p.Ile1310Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1999Pro Single submitter intellectual developmental disorder, autosomal recessive 81 ⚠

Benign 8

Benign/Likely benign 2

Likely benign 61

Uncertain significance 286