Sugi Variant

Sugi Variant/NAF1

NAF1 — 305 ClinVar variants

All ClinVar germline NAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 13 Conflicting · 7 Benign · 5 Benign/Likely benign · 86 Likely benign · 190 Uncertain significance

Full NAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 178

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 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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 138

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

Predictors split 32

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

All NAF1 variants

Pathogenic 2

  • p.Lys319fs No assertion criteria pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
  • p.Ser329fs No assertion criteria pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

Likely pathogenic 2

Conflicting classifications of pathogenicity 13

Benign 7

Benign/Likely benign 5

Likely benign 86

Uncertain significance 190