Sugi Variant

Sugi Variant/RNASEH1

RNASEH1 — 202 ClinVar variants

All ClinVar germline RNASEH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 4 Conflicting · 17 Benign · 5 Benign/Likely benign · 93 Likely benign · 77 Uncertain significance

Full RNASEH1 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 vs ClinVar 1

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 54

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 RNASEH1 variants

Pathogenic 2

  • p.Cys148Arg Single submitter
  • p.Ala185Val No assertion criteria progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Pathogenic/Likely pathogenic 1

  • p.Val142Ile Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ⚠

Likely pathogenic 3

  • p.Ala115fs Single submitter
  • p.Arg157Ter Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
  • p.Glu109fs Single submitter

Conflicting classifications of pathogenicity 4

Benign 17

Benign/Likely benign 5

Likely benign 93

Uncertain significance 77