Sugi Variant

Sugi Variant/SFTPA2

SFTPA2 — 112 ClinVar variants

All ClinVar germline SFTPA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 5 Conflicting · 19 Benign · 8 Benign/Likely benign · 26 Likely benign · 48 Uncertain significance

Full SFTPA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 3

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

Predictors lean, ClinVar uncertain 38

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

Predictors split 8

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

All SFTPA2 variants

Pathogenic 3

  • p.Asn171Ile No assertion criteria interstitial lung disease 2
  • p.Phe198Ser No assertion criteria interstitial lung disease 2
  • p.Trp233Arg No assertion criteria interstitial lung disease 2

Likely pathogenic 3

Conflicting classifications of pathogenicity 5

Benign 19

Benign/Likely benign 8

Likely benign 26

Uncertain significance 48