Sugi Variant

Sugi Variant/PUM1

PUM1 — 409 ClinVar variants

All ClinVar germline PUM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 237 flagged for review →

9 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 7 Conflicting · 25 Benign · 4 Benign/Likely benign · 82 Likely benign · 265 Uncertain significance

Full PUM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 237

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.

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 170

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 170

Predictors split 61

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

All PUM1 variants

Pathogenic 9

Pathogenic/Likely pathogenic 2

Likely pathogenic 15

Conflicting classifications of pathogenicity 7

Benign 25

Benign/Likely benign 4

Likely benign 82

Uncertain significance 265