Sugi Variant

Sugi Variant/PYGL

PYGL — 443 ClinVar variants

All ClinVar germline PYGL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

40 Pathogenic · 7 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 32 Conflicting · 45 Benign · 9 Benign/Likely benign · 98 Likely benign · 185 Uncertain significance

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

⚑ Evidence disagreements 180

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 12

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

Predictors lean, ClinVar uncertain 131

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

Predictors split 37

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

All PYGL variants

Pathogenic 40

Pathogenic/Likely pathogenic 7

  • c.1404-1G>A Multiple submitters glycogen storage disease VI
  • c.1620+1G>A Multiple submitters glycogen storage disease VI
  • c.772+1G>A Multiple submitters glycogen storage disease VI
  • p.Gln577Ter Multiple submitters glycogen storage disease VI
  • p.Trp492Ter Multiple submitters glycogen storage disease VI
  • p.Tyr649Ter Multiple submitters glycogen storage disease VI
  • p.Val456Met Multiple submitters PYGL-related disorder

Likely pathogenic 27

Conflicting classifications of pathogenicity 32

Benign 45

Benign/Likely benign 9

  • c.1827+11T>A Multiple submitters glycogen storage disease VI
  • c.2178-33dup Multiple submitters
  • c.424+6T>A Multiple submitters glycogen storage disease VI
  • c.-29A>C Multiple submitters glycogen storage disease VI
  • p.Arg321His Multiple submitters glycogen storage disease VI
  • p.Asn845Ser Multiple submitters glycogen storage disease VI
  • p.Ile806Leu Multiple submitters glycogen storage disease VI
  • p.Ser561= Multiple submitters glycogen storage disease VI
  • p.Thr59Met Multiple submitters glycogen storage disease VI

Likely benign 98

  • c.1404-8A>G Multiple submitters glycogen storage disease VI
  • c.1620+10C>G Multiple submitters glycogen storage disease VI
  • c.1828-21G>A Multiple submitters
  • c.2178-10T>A Multiple submitters glycogen storage disease VI
  • c.2380-9T>C Multiple submitters glycogen storage disease VI
  • c.855+14del Multiple submitters glycogen storage disease VI
  • p.Arg44= Multiple submitters glycogen storage disease VI
  • p.Arg576= Multiple submitters glycogen storage disease VI
  • p.Asp528= Multiple submitters glycogen storage disease VI
  • p.Glu665= Multiple submitters glycogen storage disease VI
  • p.Gly608= Multiple submitters glycogen storage disease VI
  • p.Lys10= Multiple submitters glycogen storage disease VI
  • p.Lys543= Multiple submitters glycogen storage disease VI
  • p.Phe373= Multiple submitters glycogen storage disease VI
  • p.Pro232= Multiple submitters glycogen storage disease VI
  • p.Tyr512= Multiple submitters
  • c.1000-7C>T Single submitter glycogen storage disease VI
  • c.1092+3C>T Single submitter
  • c.1093-16C>T Single submitter glycogen storage disease VI
  • c.1093-20G>A Single submitter
  • c.1093-30G>A Single submitter
  • c.1093-7C>G Single submitter glycogen storage disease VI
  • c.1403+7C>G Single submitter glycogen storage disease VI
  • c.1404-10C>T Single submitter glycogen storage disease VI
  • c.1620+12A>T Single submitter glycogen storage disease VI
  • c.1769-15C>T Single submitter glycogen storage disease VI
  • c.1769-19A>G Single submitter glycogen storage disease VI
  • c.1827+19A>G Single submitter glycogen storage disease VI
  • c.1828-21G>T Single submitter
  • c.1969+7C>A Single submitter glycogen storage disease VI
  • c.1970-15T>A Single submitter glycogen storage disease VI
  • c.2177+17T>C Single submitter glycogen storage disease VI
  • c.2177+34T>C Single submitter
  • c.2178-4A>C Single submitter
  • c.2313-16A>G Single submitter glycogen storage disease VI
  • c.2313-20T>C Single submitter glycogen storage disease VI
  • c.2313-72A>G Single submitter
  • c.2380-18T>C Single submitter glycogen storage disease VI
  • c.424+10A>T Single submitter glycogen storage disease VI
  • c.528+15T>A Single submitter glycogen storage disease VI
  • c.660+12_660+33del Single submitter glycogen storage disease VI
  • c.660+15C>T Single submitter glycogen storage disease VI
  • c.660+16G>A Single submitter glycogen storage disease VI
  • c.661-20G>C Single submitter glycogen storage disease VI
  • c.773-31T>C Single submitter
  • p.Ala130= Single submitter glycogen storage disease VI
  • p.Ala26= Single submitter glycogen storage disease VI
  • p.Ala346= Single submitter glycogen storage disease VI
  • p.Ala536Ser Single submitter Inborn genetic diseases
  • p.Ala721= Single submitter glycogen storage disease VI
  • p.Asn275= Single submitter glycogen storage disease VI
  • p.Asn441= Single submitter
  • p.Asp218= Single submitter Inborn genetic diseases
  • p.Asp422= Single submitter
  • p.Asp515= Single submitter glycogen storage disease VI
  • p.Asp786= Single submitter glycogen storage disease VI
  • p.Gln73= Single submitter glycogen storage disease VI
  • p.Gln8= Single submitter glycogen storage disease VI
  • p.Glu122Lys Single submitter glycogen storage disease VI
  • p.Glu349= Single submitter glycogen storage disease VI
  • p.Gly131= Single submitter glycogen storage disease VI
  • p.Gly455= Single submitter glycogen storage disease VI
  • p.Gly810= Single submitter glycogen storage disease VI
  • p.His769= Single submitter glycogen storage disease VI
  • p.Ile463= Single submitter glycogen storage disease VI
  • p.Ile690= Single submitter glycogen storage disease VI
  • p.Leu103= Single submitter glycogen storage disease VI
  • p.Leu118= Single submitter
  • p.Leu184= Single submitter glycogen storage disease VI
  • p.Leu350= Single submitter
  • p.Leu392= Single submitter glycogen storage disease VI
  • p.Leu418= Single submitter glycogen storage disease VI
  • p.Leu516= Single submitter glycogen storage disease VI
  • p.Leu535= Single submitter glycogen storage disease VI
  • p.Leu56= Single submitter glycogen storage disease VI
  • p.Leu86= Single submitter glycogen storage disease VI
  • p.Lys834= Single submitter glycogen storage disease VI
  • p.Pro230= Single submitter
  • p.Pro331= Single submitter glycogen storage disease VI
  • p.Pro343= Single submitter glycogen storage disease VI
  • p.Pro348= Single submitter
  • p.Thr379= Single submitter glycogen storage disease VI
  • p.Thr39= Single submitter glycogen storage disease VI
  • p.Thr552= Single submitter glycogen storage disease VI
  • p.Thr59= Single submitter glycogen storage disease VI
  • p.Thr71= Single submitter glycogen storage disease VI
  • p.Tyr158= Single submitter
  • p.Tyr727= Single submitter glycogen storage disease VI
  • p.Tyr778= Single submitter
  • p.Tyr781= Single submitter
  • p.Val207= Single submitter glycogen storage disease VI
  • p.Val221= Single submitter glycogen storage disease VI
  • p.Val556= Single submitter glycogen storage disease VI
  • c.1093-3C>T No assertion criteria PYGL-related disorder
  • c.1827+8G>A No assertion criteria PYGL-related disorder
  • p.Ala729= No assertion criteria PYGL-related disorder
  • p.Gly138= No assertion criteria PYGL-related disorder
  • p.Leu623= No assertion criteria PYGL-related disorder

Uncertain significance 185