Sugi Variant

Sugi Variant/GCSH

GCSH — 148 ClinVar variants

All ClinVar germline GCSH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 3 Conflicting · 28 Benign · 4 Benign/Likely benign · 30 Likely benign · 71 Uncertain significance

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

⚑ Evidence disagreements 65

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 1

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

Predictors lean, ClinVar uncertain 46

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

Predictors split 18

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

All GCSH variants

Pathogenic 4

  • p.Tyr113fs Single submitter glycine encephalopathy
  • c.293-60_*72dup No assertion criteria multiple mitochondrial dysfunctions syndrome 7
  • p.His57Arg No assertion criteria multiple mitochondrial dysfunctions syndrome 7
  • p.Pro115Leu No assertion criteria multiple mitochondrial dysfunctions syndrome 7

Pathogenic/Likely pathogenic 2

  • p.Gln76Ter Multiple submitters GCSH-related disorder
  • p.Met1Val Multiple submitters glycine encephalopathy

Likely pathogenic 6

  • p.Ala24fs Single submitter
  • p.Leu127Pro Single submitter multiple mitochondrial dysfunctions syndrome 7
  • p.Met1fs Single submitter multiple mitochondrial dysfunctions syndrome 7
  • p.Thr15fs Single submitter multiple mitochondrial dysfunctions syndrome 7
  • p.Val106fs Single submitter multiple mitochondrial dysfunctions syndrome 7
  • c.425-1G>T No assertion criteria glycine encephalopathy

Conflicting classifications of pathogenicity 3

Benign 28

Benign/Likely benign 4

  • c.148+15C>T Multiple submitters glycine encephalopathy
  • c.292+9T>G Multiple submitters glycine encephalopathy
  • p.Ala11= Multiple submitters glycine encephalopathy
  • p.Pro28= Multiple submitters glycine encephalopathy

Likely benign 30

  • p.Glu125= Multiple submitters glycine encephalopathy
  • p.Leu16= Multiple submitters glycine encephalopathy
  • c.149-19T>C Single submitter
  • c.228+8A>C Single submitter glycine encephalopathy
  • c.229-9T>C Single submitter
  • c.292+10C>T Single submitter glycine encephalopathy
  • c.292+16A>G Single submitter
  • c.292+7G>A Single submitter glycine encephalopathy
  • c.293-4T>C Single submitter glycine encephalopathy
  • c.425-18G>A Single submitter glycine encephalopathy
  • c.425-8G>C Single submitter glycine encephalopathy
  • c.-1C>T Single submitter
  • p.Ala24= Single submitter glycine encephalopathy
  • p.Ala78= Single submitter
  • p.Arg51= Single submitter glycine encephalopathy
  • p.Asn151= Single submitter
  • p.Cys85= Single submitter
  • p.Gly132= Single submitter
  • p.Gly34= Single submitter glycine encephalopathy
  • p.Gly44= Single submitter glycine encephalopathy
  • p.Pro25= Single submitter glycine encephalopathy
  • p.Thr43= Single submitter glycine encephalopathy
  • p.Val106= Single submitter glycine encephalopathy
  • p.Val60Ile Single submitter Inborn genetic diseases
  • p.Val82= Single submitter glycine encephalopathy
  • c.-9C>T No assertion criteria GCSH-related disorder
  • p.Arg17= No assertion criteria GCSH-related disorder
  • p.Cys14= No assertion criteria GCSH-related disorder
  • p.Leu33= No assertion criteria GCSH-related disorder
  • p.Leu47= No assertion criteria GCSH-related disorder

Uncertain significance 71