Sugi Variant

Sugi Variant/GLUD1

GLUD1 — 314 ClinVar variants

All ClinVar germline GLUD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

9 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 19 Conflicting · 7 Benign · 10 Benign/Likely benign · 100 Likely benign · 163 Uncertain significance

Full GLUD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 6

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

Predictors lean, ClinVar uncertain 102

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 GLUD1 variants

Pathogenic 9

Pathogenic/Likely pathogenic 3

  • p.Arg322His Multiple submitters GLUD1-related disorders
  • p.His315Tyr Multiple submitters familial hyperinsulinism
  • p.His507Tyr Multiple submitters Familial hyperinsulinemia

Likely pathogenic 3

Conflicting classifications of pathogenicity 19

  • c.1279-6G>A Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1402+10G>A Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1403-11T>C Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1557+12G>A Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.-44C>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Ala500= Single submitter Inborn genetic diseases
  • p.Ala500Thr Single submitter hyperinsulinism-hyperammonemia syndrome ⚠
  • p.Arg318Lys Single submitter GLUD1-related disorders ⚠
  • p.Arg318Thr Single submitter hyperinsulinism-hyperammonemia syndrome ⚠
  • p.Gly499Ser Single submitter GLUD1-related disorders ⚠
  • p.His355Tyr Single submitter hyperinsulinism-hyperammonemia syndrome ⚠
  • p.Ile505= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Lys110= Single submitter Inborn genetic diseases
  • p.Lys212Arg Single submitter Inborn genetic diseases ⚠
  • p.Met317Val Single submitter Inborn genetic diseases ⚠
  • p.Pro489Arg Single submitter hyperinsulinism-hyperammonemia syndrome ⚠
  • p.Pro489Leu Single submitter hyperinsulinism-hyperammonemia syndrome ⚠
  • p.Val131= Single submitter Inborn genetic diseases
  • p.Val81Met Single submitter ⚠

Benign 7

  • c.1060-10T>A Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • c.1198-9C>T Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • c.646+16_646+17del Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • c.647-5C>G Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.His114= Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.Leu314= Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • c.582+18A>G Single submitter hyperinsulinism-hyperammonemia syndrome

Benign/Likely benign 10

  • c.1198-9C>G Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • c.1403-11dup Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.Ala210= Multiple submitters Inborn genetic diseases
  • p.Asp126Asn Multiple submitters monogenic diabetes
  • p.Asp195= Multiple submitters Inborn genetic diseases
  • p.Gly257= Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.Gly35Glu Multiple submitters monogenic diabetes
  • p.Thr303= Multiple submitters Inborn genetic diseases
  • p.Thr490= Multiple submitters Inborn genetic diseases
  • p.Val549= Multiple submitters hyperinsulinism-hyperammonemia syndrome

Likely benign 100

  • c.526+11G>A Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • c.527-4T>G Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.Ala33= Multiple submitters Inborn genetic diseases
  • p.Asn65= Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.Glu403= Multiple submitters Inborn genetic diseases
  • p.Gly15= Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.His252= Multiple submitters Inborn genetic diseases
  • p.Lys326= Multiple submitters Inborn genetic diseases
  • p.Ser450= Multiple submitters Inborn genetic diseases
  • p.Thr436= Multiple submitters Inborn genetic diseases
  • p.Thr484= Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • p.Val156= Multiple submitters hyperinsulinism-hyperammonemia syndrome
  • c.1060-3C>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1197+20C>G Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1279-19_1279-18del Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1279-19G>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1402+19G>A Single submitter
  • c.1402+8T>C Single submitter
  • c.1403-40del Single submitter
  • c.1494+15C>G Single submitter
  • c.1495-14C>A Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.1495-8C>T Single submitter
  • c.1558-9del Single submitter
  • c.445+350A>T Single submitter
  • c.445+367T>G Single submitter
  • c.445+378T>G Single submitter
  • c.445+388del Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.446-9C>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.526+10C>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.527-12C>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.527-47T>C Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.582+7A>G Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.583-23_583-17dup Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.647-14C>G Single submitter
  • c.647-14C>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.741+20C>T Single submitter
  • c.742-8del Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.921+8C>A Single submitter
  • c.-24C>G Single submitter
  • c.*1282G>C Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.*1379C>T Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.*355T>G Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.*852A>G Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.*908T>C Single submitter hyperinsulinism-hyperammonemia syndrome
  • c.*972G>A Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Ala137= Single submitter
  • p.Ala287Thr Single submitter hyperinsulinism-hyperammonemia syndrome ⚠
  • p.Ala374= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Ala40= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Ala413= Single submitter Inborn genetic diseases
  • p.Ala518= Single submitter Inborn genetic diseases
  • p.Ala56= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Ala58= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Arg151Pro Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Arg51= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Arg76= Single submitter
  • p.Arg99= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Asn392= Single submitter
  • p.Asp377= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Asp533= Single submitter
  • p.Asp59= Single submitter Inborn genetic diseases
  • p.Asp88= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Glu95= Single submitter
  • p.Gly263= Single submitter
  • p.Gly342= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Gly404= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Gly531= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Gly72= Single submitter Inborn genetic diseases
  • p.His448= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Ile265= Single submitter Inborn genetic diseases
  • p.Ile485Thr Single submitter hyperinsulinism-hyperammonemia syndrome ⚠
  • p.Leu19= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Leu198= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Leu443= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Leu45= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Leu47= Single submitter Inborn genetic diseases
  • p.Leu9= Single submitter Inborn genetic diseases
  • p.Lys386= Single submitter
  • p.Lys457= Single submitter
  • p.Lys68= Single submitter
  • p.Phe67Ser Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Pro16= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Pro178= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Pro190= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Pro224= Single submitter Inborn genetic diseases
  • p.Pro486= Single submitter
  • p.Ser12= Single submitter Inborn genetic diseases
  • p.Ser26= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Thr144= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Thr154= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Thr91= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Tyr152= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Tyr247His Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Tyr528= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Tyr539= Single submitter hyperinsulinism-hyperammonemia syndrome
  • p.Val186= Single submitter Inborn genetic diseases
  • p.Val330= Single submitter
  • p.Val506= Single submitter Inborn genetic diseases
  • p.Val70= Single submitter Inborn genetic diseases
  • p.Ser119Cys No assertion criteria ⚠

Uncertain significance 163