Sugi Variant

Sugi Variant/AVP

AVP — 140 ClinVar variants

All ClinVar germline AVP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

23 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 6 Conflicting · 7 Benign · 2 Benign/Likely benign · 19 Likely benign · 72 Uncertain significance

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

⚑ Evidence disagreements 82

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 3

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

Predictors lean, ClinVar uncertain 39

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

Predictors split 35

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

All AVP variants

Pathogenic 23

  • p.Ala19Thr Multiple submitters neurohypophyseal diabetes insipidus ⚠
  • p.Gly54Arg Multiple submitters neurohypophyseal diabetes insipidus
  • p.Cys116Tyr Single submitter neurohypophyseal diabetes insipidus
  • p.Cys59Tyr Single submitter
  • p.Cys98Gly Single submitter
  • p.Glu108Ter Single submitter
  • p.Gly88Arg Single submitter ⚠
  • p.Gly96Cys Single submitter
  • p.Pro26Leu Single submitter neurohypophyseal diabetes insipidus
  • p.Pro55Leu Single submitter ⚠
  • p.Ser87Phe Single submitter neurohypophyseal diabetes insipidus
  • c.322+2T>G No assertion criteria
  • p.Ala19Val No assertion criteria neurohypophyseal diabetes insipidus
  • p.Cys116Gly No assertion criteria neurohypophyseal diabetes insipidus
  • p.Cys98Ter No assertion criteria neurohypophyseal diabetes insipidus
  • p.Glu113Ter No assertion criteria neurohypophyseal diabetes insipidus
  • p.Gly48Val No assertion criteria neurohypophyseal diabetes insipidus ⚠
  • p.Gly88Ser No assertion criteria neurohypophyseal diabetes insipidus ⚠
  • p.Gly93Trp No assertion criteria neurohypophyseal diabetes insipidus ⚠
  • p.Met1fs No assertion criteria neurohypophyseal diabetes insipidus
  • p.Pro7Leu No assertion criteria Diabetes insipidus, neurohypophyseal, autosomal recessive ⚠
  • p.Tyr21His No assertion criteria neurohypophyseal diabetes insipidus
  • p.Val67Ala No assertion criteria neurohypophyseal diabetes insipidus ⚠

Pathogenic/Likely pathogenic 1

Likely pathogenic 10

  • c.120+1G>A Single submitter neurohypophyseal diabetes insipidus
  • p.Arg97His Single submitter neurohypophyseal diabetes insipidus ⚠
  • p.Cys105Tyr Single submitter Inborn genetic diseases
  • p.Cys110Ser Single submitter neurohypophyseal diabetes insipidus
  • p.Cys58Ter Single submitter neurohypophyseal diabetes insipidus
  • p.Cys92Tyr Single submitter AVP-related disorder
  • p.Gly54Val Single submitter neurohypophyseal diabetes insipidus
  • p.Gly96Asp Single submitter neurohypophyseal diabetes insipidus
  • p.Cys116Arg No assertion criteria AVP-related disorder
  • p.Cys44Phe No assertion criteria neurohypophyseal diabetes insipidus

Conflicting classifications of pathogenicity 6

Benign 7

Benign/Likely benign 2

  • p.Gly50= Multiple submitters neurohypophyseal diabetes insipidus
  • p.Pro43Ala Multiple submitters Inborn genetic diseases ⚠

Likely benign 19

Uncertain significance 72