Sugi Variant

Sugi Variant/SLC1A1

SLC1A1 — 225 ClinVar variants

All ClinVar germline SLC1A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

1 Likely pathogenic · 6 Conflicting · 41 Benign · 2 Benign/Likely benign · 20 Likely benign · 155 Uncertain significance

Full SLC1A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 1

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

Predictors lean, ClinVar uncertain 79

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 SLC1A1 variants

Likely pathogenic 1

  • p.Val422Met Single submitter Cerebral visual impairment and intellectual disability

Conflicting classifications of pathogenicity 6

  • p.Ala409= Single submitter dicarboxylic aminoaciduria
  • p.Asn211= Single submitter dicarboxylic aminoaciduria
  • p.His41= Single submitter dicarboxylic aminoaciduria
  • p.Ile104Thr Single submitter dicarboxylic aminoaciduria ⚠
  • p.Ser466= Single submitter dicarboxylic aminoaciduria
  • p.Thr400= Single submitter dicarboxylic aminoaciduria

Benign 41

Benign/Likely benign 2

  • p.Asn505= Multiple submitters
  • p.Leu65= Multiple submitters dicarboxylic aminoaciduria

Likely benign 20

Uncertain significance 155