Sugi Variant

Sugi Variant/ASPRV1

ASPRV1 — 63 ClinVar variants

All ClinVar germline ASPRV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

3 Pathogenic · 7 Likely benign · 53 Uncertain significance

Full ASPRV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 3

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

Predictors lean, ClinVar uncertain 36

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

Predictors split 16

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

All ASPRV1 variants

Pathogenic 3

  • p.Arg227Pro No assertion criteria ichthyosis, lamellar, autosomal dominant ⚠
  • p.Lys115Glu No assertion criteria ichthyosis, lamellar, autosomal dominant ⚠
  • p.Pro230Thr No assertion criteria ichthyosis, lamellar, autosomal dominant ⚠

Likely benign 7

  • c.-3A>G Single submitter Inborn genetic diseases
  • c.-89C>T Single submitter Inborn genetic diseases
  • p.Ala176Val Single submitter Inborn genetic diseases
  • p.Ala87Thr Single submitter Inborn genetic diseases
  • p.Gly24Val Single submitter ichthyosis, lamellar, autosomal dominant
  • p.Lys160= Single submitter
  • p.Val18Ile Single submitter Inborn genetic diseases

Uncertain significance 53