Sugi Variant

Sugi Variant/GUCY2C

GUCY2C — 989 ClinVar variants

All ClinVar germline GUCY2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 444 flagged for review →

8 Pathogenic · 9 Likely pathogenic · 23 Conflicting · 66 Benign · 16 Benign/Likely benign · 314 Likely benign · 553 Uncertain significance

Full GUCY2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 444

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 13

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

Predictors lean, ClinVar uncertain 344

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 344

Predictors split 86

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

All GUCY2C variants

Pathogenic 8

Likely pathogenic 9

  • p.Asn726fs Single submitter GUCY2C-related disorders
  • p.Glu253fs Single submitter congenital diarrhea 6
  • p.Glu776Asp Single submitter congenital diarrhea 6
  • p.Glu789Asp Single submitter GUCY2C-related disorders
  • p.Leu775Val Single submitter congenital diarrhea 6
  • p.Leu778fs Single submitter intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
  • p.Leu785Pro Single submitter GUCY2C-related disorders
  • p.Lys350fs Single submitter meconium ileus
  • p.Met83fs Single submitter

Conflicting classifications of pathogenicity 23

Benign 66

Benign/Likely benign 16

Likely benign 314

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 553

Showing the top 300 by review status; the full set is in the sitemap.