Sugi Variant

Sugi Variant/PRKCSH

PRKCSH — 493 ClinVar variants

All ClinVar germline PRKCSH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →

23 Pathogenic · 2 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 37 Conflicting · 30 Benign · 32 Benign/Likely benign · 148 Likely benign · 202 Uncertain significance

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

⚑ Evidence disagreements 174

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 23

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

Predictors lean, ClinVar uncertain 109

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

Predictors split 41

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

All PRKCSH variants

Pathogenic 23

Pathogenic/Likely pathogenic 2

Likely pathogenic 19

  • c.683+1G>A Multiple submitters polycystic liver disease 1
  • c.684-1G>A Multiple submitters polycystic liver disease 1
  • c.762+2T>C Multiple submitters polycystic liver disease 1
  • c.1127-2A>C Single submitter polycystic liver disease 1
  • c.1462-1G>C Single submitter polycystic liver disease 1
  • c.351-2A>G Single submitter
  • c.79+1G>C Single submitter
  • p.Ala291fs Single submitter polycystic liver disease 1
  • p.Glu189fs Single submitter polycystic liver disease 1
  • p.Lys83fs Single submitter polycystic liver disease 1
  • p.Thr298fs Single submitter polycystic liver disease 1
  • p.Trp273Ter Single submitter polycystic liver disease 1
  • c.1462-1G>T No assertion criteria autosomal dominant polycystic liver disease
  • p.Asp63Ala No assertion criteria autosomal dominant polycystic liver disease
  • p.Cys100Ter No assertion criteria polycystic liver disease 1
  • p.Gln235Ter No assertion criteria polycystic liver disease 1
  • p.His76Gln No assertion criteria autosomal dominant polycystic liver disease
  • p.Lys155Arg No assertion criteria autosomal dominant polycystic liver disease ⚠
  • p.Tyr269fs No assertion criteria polycystic liver disease 1

Conflicting classifications of pathogenicity 37

Benign 30

Benign/Likely benign 32

  • c.1029+18A>G Multiple submitters
  • c.1127-4C>G Multiple submitters
  • c.1286+14A>G Multiple submitters polycystic liver disease 1
  • c.1461+20G>T Multiple submitters
  • c.350+10T>C Multiple submitters polycystic liver disease 1
  • c.351-5C>T Multiple submitters polycystic liver disease 1
  • c.469-10G>A Multiple submitters polycystic liver disease 1
  • c.683+9C>A Multiple submitters polycystic liver disease 1
  • c.80-7C>G Multiple submitters
  • c.850-12C>T Multiple submitters polycystic liver disease 1
  • c.850-14T>C Multiple submitters polycystic liver disease 1
  • p.Ala183= Multiple submitters polycystic liver disease 1
  • p.Ala251Val Multiple submitters polycystic liver disease 1
  • p.Ala274= Multiple submitters
  • p.Ala326Thr Multiple submitters polycystic liver disease 1
  • p.Asp226= Multiple submitters polycystic liver disease 1
  • p.Asp278= Multiple submitters polycystic liver disease 1
  • p.Asp530= Multiple submitters polycystic liver disease 1
  • p.Glu146= Multiple submitters polycystic liver disease 1
  • p.Glu323_Glu325del Multiple submitters
  • p.Glu325dup Multiple submitters
  • p.Glu512= Multiple submitters polycystic liver disease 1
  • p.Ile460Val Multiple submitters polycystic liver disease 1
  • p.Leu446= Multiple submitters polycystic liver disease 1
  • p.Leu453= Multiple submitters polycystic liver disease 1
  • p.Lys59Arg Multiple submitters polycystic liver disease 1
  • p.Met497Val Multiple submitters Inborn genetic diseases
  • p.Pro364= Multiple submitters polycystic liver disease 1
  • p.Ser310= Multiple submitters polycystic liver disease 1
  • p.Ser420= Multiple submitters polycystic liver disease 1
  • p.Tyr269= Multiple submitters polycystic liver disease 1
  • p.Val431Ala Multiple submitters polycystic liver disease 1

Likely benign 148

Uncertain significance 202