Sugi Variant

Sugi Variant/COG8

COG8 — 268 ClinVar variants

All ClinVar germline COG8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 21 Conflicting · 14 Benign · 7 Benign/Likely benign · 72 Likely benign · 138 Uncertain significance

Full COG8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 133

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 3

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

Predictors lean, ClinVar uncertain 54

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

Predictors split 76

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

All COG8 variants

Pathogenic 5

  • p.Asp343fs Single submitter COG8-congenital disorder of glycosylation
  • p.Leu517fs Single submitter COG8-congenital disorder of glycosylation
  • p.Val455fs Single submitter
  • c.1413+1G>A No assertion criteria COG8-congenital disorder of glycosylation
  • p.Tyr537Ter No assertion criteria COG8-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 2

  • c.1583-1G>A Multiple submitters COG8-congenital disorder of glycosylation
  • p.Glu560fs Multiple submitters COG8-related disorder

Likely pathogenic 9

Conflicting classifications of pathogenicity 21

  • c.1413+12C>G Single submitter COG8-congenital disorder of glycosylation
  • c.585+8C>T Single submitter COG8-congenital disorder of glycosylation
  • p.Arg139His Single submitter Inborn genetic diseases ⚠
  • p.Arg336Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn199= Single submitter COG8-congenital disorder of glycosylation
  • p.Gln568Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu296Lys Single submitter COG8-congenital disorder of glycosylation ⚠
  • p.Gly339= Single submitter COG8-congenital disorder of glycosylation
  • p.Gly360Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly365Arg Single submitter COG8-congenital disorder of glycosylation ⚠
  • p.Gly490Trp Single submitter Inborn genetic diseases ⚠
  • p.Ile7Val Single submitter Inborn genetic diseases ⚠
  • p.Leu175= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu517Val Single submitter Inborn genetic diseases ⚠
  • p.Pro301= Single submitter COG8-congenital disorder of glycosylation
  • p.Pro508= Single submitter COG8-congenital disorder of glycosylation
  • p.Ser489= Single submitter COG8-congenital disorder of glycosylation
  • p.Thr332= Single submitter COG8-congenital disorder of glycosylation
  • p.Thr561Met Single submitter COG8-congenital disorder of glycosylation ⚠
  • p.Val129Ala Single submitter Inborn genetic diseases ⚠
  • p.Val201= Single submitter COG8-congenital disorder of glycosylation

Benign 14

Benign/Likely benign 7

  • p.Leu540= Multiple submitters COG8-congenital disorder of glycosylation
  • p.Met235Thr Multiple submitters COG8-congenital disorder of glycosylation
  • p.Pro530Leu Multiple submitters COG8-congenital disorder of glycosylation
  • p.Pro531Ser Multiple submitters COG8-congenital disorder of glycosylation ⚠
  • p.Pro581Thr Multiple submitters Inborn genetic diseases
  • p.Thr575Ile Multiple submitters COG8-congenital disorder of glycosylation ⚠
  • p.Val193Ala Multiple submitters COG8-congenital disorder of glycosylation

Likely benign 72

  • c.1583-46T>G Multiple submitters
  • c.*26+107C>T Multiple submitters
  • c.*26+149C>A Multiple submitters
  • p.Ala174= Multiple submitters COG8-congenital disorder of glycosylation
  • p.Cys595= Multiple submitters COG8-congenital disorder of glycosylation
  • p.Ile7Ser Multiple submitters COG8-congenital disorder of glycosylation
  • p.Ter613= Multiple submitters COG8-congenital disorder of glycosylation
  • c.1413+310C>T Single submitter
  • c.1414-189_1414-174del Single submitter
  • c.1414-303dup Single submitter
  • c.1582+135_1582+136dup Single submitter
  • c.1583-124dup Single submitter
  • c.1583-6G>T Single submitter COG8-congenital disorder of glycosylation
  • c.377+10G>A Single submitter
  • c.377+14G>A Single submitter COG8-congenital disorder of glycosylation
  • c.378-11A>G Single submitter COG8-congenital disorder of glycosylation
  • c.378-12G>A Single submitter
  • c.585+11T>C Single submitter
  • c.585+16AG[2] Single submitter COG8-congenital disorder of glycosylation
  • c.586-20CT[2] Single submitter COG8-congenital disorder of glycosylation
  • c.586-6T>C Single submitter
  • c.-27A>C Single submitter
  • c.*11_*12del Single submitter
  • c.*27-8del Single submitter
  • p.Ala11= Single submitter
  • p.Ala2= Single submitter
  • p.Ala38= Single submitter
  • p.Ala4= Single submitter COG8-congenital disorder of glycosylation
  • p.Ala5= Single submitter
  • p.Arg183= Single submitter COG8-congenital disorder of glycosylation
  • p.Arg186= Single submitter COG8-congenital disorder of glycosylation
  • p.Arg358= Single submitter COG8-congenital disorder of glycosylation
  • p.Arg481= Single submitter COG8-congenital disorder of glycosylation
  • p.Arg51= Single submitter
  • p.Arg80= Single submitter COG8-congenital disorder of glycosylation
  • p.Asp236= Single submitter COG8-congenital disorder of glycosylation
  • p.Cys513Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln215= Single submitter COG8-congenital disorder of glycosylation
  • p.Glu22= Single submitter COG8-congenital disorder of glycosylation
  • p.Glu466= Single submitter COG8-congenital disorder of glycosylation
  • p.Glu491= Single submitter COG8-congenital disorder of glycosylation
  • p.Gly365= Single submitter COG8-congenital disorder of glycosylation
  • p.Gly598= Single submitter COG8-congenital disorder of glycosylation
  • p.His270= Single submitter COG8-congenital disorder of glycosylation
  • p.Ile275= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu103= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu114= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu118= Single submitter
  • p.Leu161= Single submitter
  • p.Leu327= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu435= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu451= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu517= Single submitter COG8-congenital disorder of glycosylation
  • p.Leu556= Single submitter COG8-congenital disorder of glycosylation
  • p.Lys381= Single submitter
  • p.Phe269Ile Single submitter
  • p.Pro119= Single submitter COG8-congenital disorder of glycosylation
  • p.Pro298= Single submitter COG8-congenital disorder of glycosylation
  • p.Pro403= Single submitter
  • p.Pro44= Single submitter COG8-congenital disorder of glycosylation
  • p.Pro607Leu Single submitter Inborn genetic diseases
  • p.Pro8= Single submitter COG8-congenital disorder of glycosylation
  • p.Ser355= Single submitter
  • p.Ser401= Single submitter COG8-congenital disorder of glycosylation
  • p.Ser54= Single submitter
  • p.Thr561= Single submitter
  • p.Thr603= Single submitter
  • p.Tyr171= Single submitter
  • p.Tyr180= Single submitter COG8-congenital disorder of glycosylation
  • p.Tyr397= Single submitter COG8-congenital disorder of glycosylation
  • p.Tyr49= Single submitter COG8-congenital disorder of glycosylation
  • p.Val496= Single submitter COG8-congenital disorder of glycosylation

Uncertain significance 138