Sugi Variant

Sugi Variant/COG1

COG1 — 492 ClinVar variants

All ClinVar germline COG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 251 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 23 Conflicting · 30 Benign · 8 Benign/Likely benign · 153 Likely benign · 258 Uncertain significance

Full COG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 251

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 8

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

Predictors lean, ClinVar uncertain 153

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 153

Predictors split 90

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

All COG1 variants

Pathogenic 12

  • c.1070+5G>A Multiple submitters COG1-congenital disorder of glycosylation
  • p.Arg336Ter Multiple submitters COG1-congenital disorder of glycosylation
  • p.Arg889fs Single submitter COG1-congenital disorder of glycosylation
  • p.Asn364fs Single submitter COG1-congenital disorder of glycosylation
  • p.Gln139Ter Single submitter COG1-congenital disorder of glycosylation
  • p.Gln573Ter Single submitter COG1-congenital disorder of glycosylation
  • p.Gln896Ter Single submitter COG1-congenital disorder of glycosylation
  • p.Glu468Ter Single submitter COG1-congenital disorder of glycosylation
  • p.Gly496fs Single submitter COG1-congenital disorder of glycosylation
  • p.Gly877fs Single submitter COG1-congenital disorder of glycosylation
  • p.Lys377fs Single submitter COG1-congenital disorder of glycosylation
  • p.Tyr86fs Single submitter COG1-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 1

  • p.Trp476Ter Multiple submitters COG1-congenital disorder of glycosylation

Likely pathogenic 7

Conflicting classifications of pathogenicity 23

  • c.1282-3T>C Single submitter COG1-congenital disorder of glycosylation
  • c.2511-5C>G Single submitter COG1-congenital disorder of glycosylation
  • c.2619+11T>A Single submitter COG1-congenital disorder of glycosylation
  • c.560+15C>T Single submitter COG1-congenital disorder of glycosylation
  • c.561-6T>C Single submitter COG1-congenital disorder of glycosylation
  • c.743-10C>G Single submitter COG1-congenital disorder of glycosylation
  • p.Ala181Val Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Ala739Val Single submitter Inborn genetic diseases ⚠
  • p.Ala887Thr Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Arg571Gln Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Arg586Gln Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Arg89Cys Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Arg941His Single submitter Inborn genetic diseases ⚠
  • p.Asn894= Single submitter COG1-congenital disorder of glycosylation
  • p.Gln301His Single submitter Inborn genetic diseases ⚠
  • p.Gln630= Single submitter COG1-congenital disorder of glycosylation
  • p.Glu645Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu789Lys Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Pro128= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser134Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser574= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser7Leu Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Thr768= Single submitter COG1-congenital disorder of glycosylation

Benign 30

Benign/Likely benign 8

  • c.2620-10T>G Multiple submitters COG1-congenital disorder of glycosylation
  • c.2806-13C>T Multiple submitters COG1-congenital disorder of glycosylation
  • p.Ala20Pro Multiple submitters COG1-congenital disorder of glycosylation ⚠
  • p.Cys631= Multiple submitters COG1-congenital disorder of glycosylation
  • p.Ile177Val Multiple submitters COG1-congenital disorder of glycosylation
  • p.Pro174= Multiple submitters COG1-congenital disorder of glycosylation
  • p.Thr350Met Multiple submitters COG1-congenital disorder of glycosylation ⚠
  • p.Val259Leu Multiple submitters COG1-congenital disorder of glycosylation

Likely benign 153

  • c.2729+28G>A Multiple submitters
  • c.2805+39C>T Multiple submitters
  • p.Ala806= Multiple submitters COG1-congenital disorder of glycosylation
  • p.Gly32= Multiple submitters COG1-congenital disorder of glycosylation
  • p.Leu570= Multiple submitters COG1-congenital disorder of glycosylation
  • p.Pro741= Multiple submitters COG1-congenital disorder of glycosylation
  • p.Thr948= Multiple submitters Inborn genetic diseases
  • c.1070+9C>A Single submitter COG1-congenital disorder of glycosylation
  • c.1071-15A>G Single submitter COG1-congenital disorder of glycosylation
  • c.1282-15C>G Single submitter COG1-congenital disorder of glycosylation
  • c.1282-8T>G Single submitter COG1-congenital disorder of glycosylation
  • c.2073+17C>T Single submitter COG1-congenital disorder of glycosylation
  • c.2220+14A>G Single submitter COG1-congenital disorder of glycosylation
  • c.2220+15T>C Single submitter COG1-congenital disorder of glycosylation
  • c.2220+15T>G Single submitter COG1-congenital disorder of glycosylation
  • c.2220+18del Single submitter COG1-congenital disorder of glycosylation
  • c.2220+18G>C Single submitter COG1-congenital disorder of glycosylation
  • c.2220+9G>A Single submitter COG1-congenital disorder of glycosylation
  • c.2221-16T>A Single submitter COG1-congenital disorder of glycosylation
  • c.2221-209C>T Single submitter
  • c.2221-7C>T Single submitter COG1-congenital disorder of glycosylation
  • c.2383-10T>C Single submitter COG1-congenital disorder of glycosylation
  • c.2383-14G>A Single submitter COG1-congenital disorder of glycosylation
  • c.2510+18G>A Single submitter COG1-congenital disorder of glycosylation
  • c.2619+17A>T Single submitter COG1-congenital disorder of glycosylation
  • c.2620-11_2620-10del Single submitter COG1-congenital disorder of glycosylation
  • c.2620-12_2620-10del Single submitter COG1-congenital disorder of glycosylation
  • c.2620-13T>C Single submitter COG1-congenital disorder of glycosylation
  • c.2620-9G>C Single submitter COG1-congenital disorder of glycosylation
  • c.2730-18T>C Single submitter COG1-congenital disorder of glycosylation
  • c.2805+13_2805+20del Single submitter COG1-congenital disorder of glycosylation
  • c.2805+14G>A Single submitter COG1-congenital disorder of glycosylation
  • c.2805+18G>C Single submitter COG1-congenital disorder of glycosylation
  • c.2805+448C>T Single submitter
  • c.2805+7G>A Single submitter COG1-congenital disorder of glycosylation
  • c.2805+7G>C Single submitter COG1-congenital disorder of glycosylation
  • c.2806-4G>T Single submitter
  • c.315+18C>T Single submitter COG1-congenital disorder of glycosylation
  • c.316-6C>T Single submitter COG1-congenital disorder of glycosylation
  • c.316-9C>T Single submitter COG1-congenital disorder of glycosylation
  • c.560+16G>A Single submitter COG1-congenital disorder of glycosylation
  • c.560+18A>C Single submitter COG1-congenital disorder of glycosylation
  • c.560+8G>A Single submitter COG1-congenital disorder of glycosylation
  • c.561-11_561-9del Single submitter COG1-congenital disorder of glycosylation
  • c.742+14C>G Single submitter COG1-congenital disorder of glycosylation
  • c.743-4T>C Single submitter COG1-congenital disorder of glycosylation
  • c.913+18C>A Single submitter COG1-congenital disorder of glycosylation
  • c.913+9T>G Single submitter COG1-congenital disorder of glycosylation
  • c.914-14G>C Single submitter COG1-congenital disorder of glycosylation
  • c.914-8C>A Single submitter COG1-congenital disorder of glycosylation
  • c.914-8C>G Single submitter COG1-congenital disorder of glycosylation
  • p.Ala182= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala183= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala19= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala339= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala380= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala4= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala73= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala739= Single submitter
  • p.Ala79= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala905= Single submitter COG1-congenital disorder of glycosylation
  • p.Ala966= Single submitter COG1-congenital disorder of glycosylation
  • p.Arg224Cys Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Arg38= Single submitter COG1-congenital disorder of glycosylation
  • p.Arg383= Single submitter COG1-congenital disorder of glycosylation
  • p.Arg404Gln Single submitter Inborn genetic diseases
  • p.Arg814= Single submitter COG1-congenital disorder of glycosylation
  • p.Arg831= Single submitter COG1-congenital disorder of glycosylation
  • p.Asn396Ser Single submitter Inborn genetic diseases
  • p.Asn804= Single submitter COG1-congenital disorder of glycosylation
  • p.Asp205Asn Single submitter COG1-congenital disorder of glycosylation
  • p.Asp384= Single submitter COG1-congenital disorder of glycosylation
  • p.Asp84= Single submitter
  • p.Cys625= Single submitter COG1-congenital disorder of glycosylation
  • p.Cys87= Single submitter COG1-congenital disorder of glycosylation
  • p.Gln450= Single submitter COG1-congenital disorder of glycosylation
  • p.Gln676= Single submitter COG1-congenital disorder of glycosylation
  • p.Gln68= Single submitter COG1-congenital disorder of glycosylation
  • p.Gln779= Single submitter
  • p.Glu42= Single submitter COG1-congenital disorder of glycosylation
  • p.Glu785= Single submitter COG1-congenital disorder of glycosylation
  • p.Gly250= Single submitter COG1-congenital disorder of glycosylation
  • p.His142= Single submitter COG1-congenital disorder of glycosylation
  • p.His192Pro Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.His270= Single submitter COG1-congenital disorder of glycosylation
  • p.Ile131= Single submitter COG1-congenital disorder of glycosylation
  • p.Ile328= Single submitter COG1-congenital disorder of glycosylation
  • p.Ile328Val Single submitter Inborn genetic diseases
  • p.Ile510= Single submitter COG1-congenital disorder of glycosylation
  • p.Ile592= Single submitter COG1-congenital disorder of glycosylation
  • p.Ile660= Single submitter COG1-congenital disorder of glycosylation
  • p.Ile838= Single submitter COG1-congenital disorder of glycosylation
  • p.Ile930= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu141= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu156= Single submitter
  • p.Leu170= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu191= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu402= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu407= Single submitter
  • p.Leu445= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu589= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu693= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu787= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu854= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu878= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu886= Single submitter COG1-congenital disorder of glycosylation
  • p.Leu916= Single submitter
  • p.Lys113= Single submitter COG1-congenital disorder of glycosylation
  • p.Lys235= Single submitter COG1-congenital disorder of glycosylation
  • p.Lys306= Single submitter COG1-congenital disorder of glycosylation
  • p.Lys353= Single submitter COG1-congenital disorder of glycosylation
  • p.Lys526= Single submitter COG1-congenital disorder of glycosylation
  • p.Lys828= Single submitter COG1-congenital disorder of glycosylation
  • p.Lys925= Single submitter COG1-congenital disorder of glycosylation
  • p.Phe954= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro109= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro168= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro662= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro8= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro888= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro903= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro939= Single submitter COG1-congenital disorder of glycosylation
  • p.Pro947= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser134= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser184= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser441= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser472= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser501= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser638Arg Single submitter COG1-congenital disorder of glycosylation ⚠
  • p.Ser708= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser733= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser788= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser891= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser942= Single submitter COG1-congenital disorder of glycosylation
  • p.Ser976= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr264= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr3= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr6= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr802= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr83= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr842= Single submitter
  • p.Thr858= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr892= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr927= Single submitter COG1-congenital disorder of glycosylation
  • p.Thr964= Single submitter COG1-congenital disorder of glycosylation
  • p.Tyr274= Single submitter COG1-congenital disorder of glycosylation
  • p.Tyr372= Single submitter COG1-congenital disorder of glycosylation
  • p.Tyr535= Single submitter COG1-congenital disorder of glycosylation
  • p.Tyr560= Single submitter COG1-congenital disorder of glycosylation
  • p.Tyr86= Single submitter COG1-congenital disorder of glycosylation
  • p.Val684= Single submitter COG1-congenital disorder of glycosylation
  • p.Asp825= No assertion criteria COG1-related disorder
  • p.Leu475= No assertion criteria COG1-related disorder

Uncertain significance 258