Sugi Variant

Sugi Variant/ARV1

ARV1 — 76 ClinVar variants

All ClinVar germline ARV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 2 Conflicting · 2 Benign · 3 Benign/Likely benign · 10 Likely benign · 43 Uncertain significance

Full ARV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 39

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 1

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

Predictors lean, ClinVar uncertain 31

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

Predictors split 7

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

All ARV1 variants

Pathogenic 5

  • c.294+1G>A Multiple submitters developmental and epileptic encephalopathy, 38
  • c.175-3_175-2inv Single submitter developmental and epileptic encephalopathy, 38
  • p.Asn98fs Single submitter developmental and epileptic encephalopathy, 38
  • p.Asp129fs Single submitter developmental and epileptic encephalopathy, 38
  • p.His50fs Single submitter Inborn genetic diseases

Pathogenic/Likely pathogenic 1

  • p.Pro174fs Multiple submitters ARV1-related disorder

Likely pathogenic 10

  • c.175-2A>G Multiple submitters developmental and epileptic encephalopathy, 38
  • c.448+1G>T Single submitter
  • p.Cys104fs Single submitter
  • p.Gly189Arg Single submitter congenital nervous system disorder
  • p.Ile198fs Single submitter developmental and epileptic encephalopathy, 38
  • p.Leu192fs Single submitter developmental and epileptic encephalopathy, 38
  • p.Lys173fs Single submitter
  • p.Met1Thr Single submitter
  • p.Ser122fs Single submitter developmental and epileptic encephalopathy, 38
  • p.Trp117Ter Single submitter ARV1-related disorder

Conflicting classifications of pathogenicity 2

  • c.674-2A>T Single submitter developmental and epileptic encephalopathy, 38
  • p.Val213Leu Single submitter developmental and epileptic encephalopathy, 38 ⚠

Benign 2

  • c.175-11T>C Multiple submitters developmental and epileptic encephalopathy, 38
  • p.Gly101Glu Multiple submitters developmental and epileptic encephalopathy, 38

Benign/Likely benign 3

Likely benign 10

Uncertain significance 43