Sugi Variant

Sugi Variant/PIGV

PIGV — 382 ClinVar variants

All ClinVar germline PIGV variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

3 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 25 Conflicting · 7 Benign · 2 Benign/Likely benign · 129 Likely benign · 208 Uncertain significance

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

⚑ Evidence disagreements 183

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 12

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

Predictors lean, ClinVar uncertain 114

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

Predictors split 56

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

All PIGV variants

Pathogenic 3

  • p.Ala341Val No assertion criteria hyperphosphatasia with intellectual disability syndrome 1 ⚠
  • p.Gln256Lys No assertion criteria hyperphosphatasia with intellectual disability syndrome 1
  • p.His385Pro No assertion criteria hyperphosphatasia with intellectual disability syndrome 1

Pathogenic/Likely pathogenic 3

  • p.Ala341Glu Multiple submitters PIGV-related disorder
  • p.Arg203Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 1
  • p.Cys156Tyr Multiple submitters PIGV-related disorder

Likely pathogenic 5

Conflicting classifications of pathogenicity 25

  • c.1200+1G>T Single submitter
  • p.Ala165Glu Single submitter PIGV-related disorder
  • p.Arg106Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg106Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg270His Single submitter hyperphosphatasia with intellectual disability syndrome 1 ⚠
  • p.Asn205Ser Single submitter PIGV-related disorder ⚠
  • p.Asn291Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn364Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp282del Single submitter
  • p.Gln147Ter Single submitter hyperphosphatasia with intellectual disability syndrome 1
  • p.Glu39Lys Single submitter Inborn genetic diseases ⚠
  • p.His143Arg Single submitter hyperphosphatasia with intellectual disability syndrome 1 ⚠
  • p.Ile117Val Single submitter hyperphosphatasia with intellectual disability syndrome 1
  • p.Leu116= Single submitter hyperphosphatasia with intellectual disability syndrome 1
  • p.Leu439= Single submitter
  • p.Leu457Phe Single submitter hyperphosphatasia with intellectual disability syndrome 1 ⚠
  • p.Leu472Pro Single submitter ⚠
  • p.Lys362Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro293= Single submitter hyperphosphatasia with intellectual disability syndrome 1
  • p.Pro426Leu Single submitter hyperphosphatasia with intellectual disability syndrome 1 ⚠
  • p.Pro89Ser Single submitter hyperphosphatasia with intellectual disability syndrome 1 ⚠
  • p.Ser49Ter Single submitter hyperphosphatasia with intellectual disability syndrome 1
  • p.Thr226= Single submitter
  • p.Trp66Ter Single submitter
  • p.Val383Met Single submitter hyperphosphatasia with intellectual disability syndrome 1 ⚠

Benign 7

  • c.-333C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 1
  • c.-338A>C Multiple submitters hyperphosphatasia with intellectual disability syndrome 1
  • c.*149G>A Multiple submitters hyperphosphatasia with intellectual disability syndrome 1
  • c.*210A>G Multiple submitters hyperphosphatasia with intellectual disability syndrome 1
  • c.1200+196C>A Single submitter
  • c.1201-190G>A Single submitter
  • c.*167G>A Single submitter hyperphosphatasia with intellectual disability syndrome 1

Benign/Likely benign 2

  • p.Asn205= Multiple submitters hyperphosphatasia with intellectual disability syndrome 1
  • p.Pro34Leu Multiple submitters hyperphosphatasia with intellectual disability syndrome 1 ⚠

Likely benign 129

Uncertain significance 208