Sugi Variant

Sugi Variant/PARS2

PARS2 — 222 ClinVar variants

All ClinVar germline PARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

1 Pathogenic · 7 Likely pathogenic · 7 Conflicting · 8 Benign · 7 Benign/Likely benign · 62 Likely benign · 130 Uncertain significance

Full PARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 3

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

Predictors lean, ClinVar uncertain 95

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

Predictors split 25

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

All PARS2 variants

Pathogenic 1

Likely pathogenic 7

Conflicting classifications of pathogenicity 7

Benign 8

Benign/Likely benign 7

Likely benign 62

Uncertain significance 130