Sugi Variant

Sugi Variant/GLMN

GLMN — 189 ClinVar variants

All ClinVar germline GLMN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →

16 Pathogenic · 12 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 10 Conflicting · 32 Benign · 5 Benign/Likely benign · 17 Likely benign · 68 Uncertain significance

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

⚑ Evidence disagreements 66

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 7

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 38

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

Predictors split 19

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

All GLMN variants

Pathogenic 16

Pathogenic/Likely pathogenic 12

  • c.1214+2T>C Multiple submitters Inborn genetic diseases
  • p.Asn393del Multiple submitters GLMN-related disorders
  • p.Asn490fs Multiple submitters GLMN-related disorders
  • p.Cys36Ter Multiple submitters Venous malformation
  • p.Glu196fs Multiple submitters GLMN-related disorders
  • p.Glu52_Lys53insTer Multiple submitters Vascular skin disorders
  • p.Leu248fs Multiple submitters Inborn genetic diseases
  • p.Leu282fs Multiple submitters glomuvenous malformation
  • p.Leu324fs Multiple submitters Vascular skin disorders
  • p.Leu452fs Multiple submitters GLMN-related disorders
  • p.Ser330fs Multiple submitters glomuvenous malformation
  • p.Ser384fs Multiple submitters GLMN-related disorders

Likely pathogenic 29

Conflicting classifications of pathogenicity 10

Benign 32

Benign/Likely benign 5

  • c.165+10A>G Multiple submitters glomuvenous malformation
  • c.40-6dup Multiple submitters
  • p.Ala146Thr Multiple submitters glomuvenous malformation
  • p.Leu173= Multiple submitters glomuvenous malformation
  • p.Tyr353His Multiple submitters glomuvenous malformation

Likely benign 17

Uncertain significance 68