Sugi Variant

Sugi Variant/LAT

LAT — 231 ClinVar variants

All ClinVar germline LAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

8 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 11 Benign · 4 Benign/Likely benign · 127 Likely benign · 78 Uncertain significance

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

⚑ Evidence disagreements 67

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 2

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 5

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

All LAT variants

Pathogenic 8

  • p.Ala18fs Single submitter severe combined immunodeficiency due to LAT deficiency
  • p.Arg159Ter Single submitter
  • p.Asp42fs Single submitter
  • p.Gln196Ter Single submitter
  • p.Ser96fs Single submitter
  • p.Thr94fs Single submitter
  • p.Gly90fs No assertion criteria severe combined immunodeficiency due to LAT deficiency
  • p.Leu16fs No assertion criteria severe combined immunodeficiency due to LAT deficiency

Likely pathogenic 1

  • p.Val27fs Single submitter LAT-related disorders

Conflicting classifications of pathogenicity 2

Benign 11

Benign/Likely benign 4

Likely benign 127

Uncertain significance 78