Sugi Variant

Sugi Variant/PRPH

PRPH — 86 ClinVar variants

All ClinVar germline PRPH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

3 Likely pathogenic · 3 Conflicting · 9 Benign · 1 Benign/Likely benign · 4 Likely benign · 66 Uncertain significance

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

⚑ Evidence disagreements 64

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 52

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

Predictors split 11

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

All PRPH variants

Likely pathogenic 3

  • c.871-1G>A Single submitter amyotrophic lateral sclerosis type 1
  • p.Gln249Ter Single submitter amyotrophic lateral sclerosis type 1
  • p.Gln307Ter Single submitter amyotrophic lateral sclerosis type 1

Conflicting classifications of pathogenicity 3

Benign 9

Benign/Likely benign 1

Likely benign 4

Uncertain significance 66