Sugi Variant

Sugi Variant/PIGK

PIGK — 81 ClinVar variants

All ClinVar germline PIGK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →

9 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 5 Benign · 10 Likely benign · 53 Uncertain significance

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

⚑ Evidence disagreements 47

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 37

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

Predictors split 8

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

All PIGK variants

Pathogenic 9

  • p.Leu110_Asn111insTer Multiple submitters neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • c.94-1G>C No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Ala87Val No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Asp204His No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Cys275Arg No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Gln33Ter No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Ile30fs No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Ser53Phe No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Tyr160Ser No assertion criteria neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

Likely pathogenic 2

  • p.Arg54Ter Single submitter neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Tyr249Cys Single submitter

Conflicting classifications of pathogenicity 2

  • p.Ala184Val Single submitter neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures ⚠
  • p.Asp204Val Single submitter Inborn genetic diseases ⚠

Benign 5

  • c.703-6C>T Multiple submitters neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • c.*2C>G Multiple submitters neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Thr16Ala Multiple submitters
  • p.Tyr124= Multiple submitters neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
  • p.Ala184= Single submitter

Likely benign 10

Uncertain significance 53