Sugi Variant

Sugi Variant/SPOP

SPOP — 208 ClinVar variants

All ClinVar germline SPOP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 8 Conflicting · 1 Benign · 15 Likely benign · 173 Uncertain significance

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

⚑ Evidence disagreements 94

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 6

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

Predictors lean, ClinVar uncertain 62

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

Predictors split 26

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

All SPOP variants

Pathogenic/Likely pathogenic 3

  • p.Arg121Gln Multiple submitters neurodevelopmental disorder with microcephaly and dysmorphic facies ⚠
  • p.Arg138Cys Multiple submitters neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
  • p.Asp144Asn Multiple submitters neurodevelopmental disorder with microcephaly and dysmorphic facies ⚠

Likely pathogenic 8

  • p.Glu118Lys Single submitter neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
  • p.Gly132Val Single submitter neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
  • p.Gly208Cys Single submitter
  • p.Leu157fs Single submitter Nabais Sa-de Vries syndrome
  • p.Leu86Pro Single submitter
  • p.Phe104Leu Single submitter neurodevelopmental disorder with microcephaly and dysmorphic facies ⚠
  • p.Tyr83Cys Single submitter neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
  • c.79-1G>C No assertion criteria SPOP-related disorder

Conflicting classifications of pathogenicity 8

  • p.Arg99Trp Single submitter neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies ⚠
  • p.Asn72Lys Single submitter neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies ⚠
  • p.Glu160Lys Single submitter neurodevelopmental disorder with microcephaly and dysmorphic facies ⚠
  • p.Gly128Val Single submitter SPOP-related disorder ⚠
  • p.Gly208Ser Single submitter neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies ⚠
  • p.Gly75Arg Single submitter SPOP-related neurodevelopmental condition ⚠
  • p.Thr25Ala Single submitter neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies ⚠
  • p.Phe102Cys No assertion criteria prostate cancer ⚠

Benign 1

Likely benign 15

Uncertain significance 173