Sugi Variant

Sugi Variant/CLDN16

CLDN16 — 265 ClinVar variants

All ClinVar germline CLDN16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

23 Pathogenic · 5 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 13 Conflicting · 24 Benign · 4 Benign/Likely benign · 49 Likely benign · 126 Uncertain significance

Full CLDN16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 67

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 32

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

Predictors split 25

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

All CLDN16 variants

Pathogenic 23

  • p.Arg79Ter Multiple submitters renal hypomagnesemia 3
  • p.Gly169Arg Multiple submitters renal hypomagnesemia 3
  • p.Leu81Phe Multiple submitters renal hypomagnesemia 3 ⚠
  • p.Gly121Arg Single submitter renal hypomagnesemia 3
  • p.Leu125Pro Single submitter renal hypomagnesemia 3
  • p.Leu75Pro Single submitter renal hypomagnesemia 3
  • p.Lys113delinsAsnTer Single submitter renal hypomagnesemia 3
  • p.Val51Gly Single submitter thrombocytopenia 5
  • c.(?_598 No assertion criteria renal hypomagnesemia 3
  • p.Arg79Gln No assertion criteria renal hypomagnesemia 3
  • p.Gly131Glu No assertion criteria renal hypomagnesemia 3
  • p.Gly157fs No assertion criteria renal hypomagnesemia 3
  • p.Gly163Asp No assertion criteria renal hypomagnesemia 3
  • p.Leu151Phe No assertion criteria renal hypomagnesemia 3 ⚠
  • p.Leu81Trp No assertion criteria renal hypomagnesemia 3
  • p.Leu97Pro No assertion criteria renal hypomagnesemia 3
  • p.Lys205Ter No assertion criteria renal hypomagnesemia 3
  • p.Met1Arg No assertion criteria renal hypomagnesemia 3 ⚠
  • p.Phe55fs No assertion criteria renal hypomagnesemia 3
  • p.Ser165Phe No assertion criteria renal hypomagnesemia 3
  • p.Thr233Arg No assertion criteria HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING ⚠
  • p.Trp47Ter No assertion criteria renal hypomagnesemia 3
  • p.Tyr207Ter No assertion criteria renal hypomagnesemia 3

Pathogenic/Likely pathogenic 5

Likely pathogenic 21

Conflicting classifications of pathogenicity 13

Benign 24

Benign/Likely benign 4

  • c.*204C>T Multiple submitters renal hypomagnesemia 3
  • p.Ala209Asp Multiple submitters renal hypomagnesemia 3
  • p.Leu178= Multiple submitters renal hypomagnesemia 3
  • p.Phe55= Multiple submitters renal hypomagnesemia 3

Likely benign 49

Uncertain significance 126