Sugi Variant

Sugi Variant/PSMC5

PSMC5 — 57 ClinVar variants

All ClinVar germline PSMC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Conflicting · 4 Benign · 7 Likely benign · 41 Uncertain significance

Full PSMC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 39

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 1

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 32

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

Predictors split 6

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

All PSMC5 variants

Pathogenic 2

Pathogenic/Likely pathogenic 1

  • p.Pro320Arg Multiple submitters PSMC5-related Neurodevelopmental proteasomopathy

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

  • p.Asp394fs Single submitter PSMC5-related neurodevelopmental condition ⚠

Benign 4

Likely benign 7

Uncertain significance 41