Sugi Variant

Sugi Variant/SLC35A1

SLC35A1 — 127 ClinVar variants

All ClinVar germline SLC35A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Conflicting · 15 Benign · 4 Benign/Likely benign · 56 Likely benign · 45 Uncertain significance

Full SLC35A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 42

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 29

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

Predictors split 10

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

All SLC35A1 variants

Pathogenic 2

  • p.Gln101His No assertion criteria SLC35A1-congenital disorder of glycosylation
  • p.Ser147Pro No assertion criteria SLC35A1-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 2

  • p.Glu196Lys No assertion criteria SLC35A1-congenital disorder of glycosylation
  • p.Thr156Arg No assertion criteria SLC35A1-congenital disorder of glycosylation

Conflicting classifications of pathogenicity 3

  • p.Ala3Ser Single submitter SLC35A1-congenital disorder of glycosylation ⚠
  • p.Leu57Phe Single submitter SLC35A1-congenital disorder of glycosylation ⚠
  • p.Thr45Ala Single submitter SLC35A1-congenital disorder of glycosylation ⚠

Benign 15

Benign/Likely benign 4

  • c.16+19G>A Multiple submitters SLC35A1-congenital disorder of glycosylation
  • c.887-14T>C Multiple submitters SLC35A1-congenital disorder of glycosylation
  • c.887-9dup Multiple submitters SLC35A1-congenital disorder of glycosylation
  • p.Asn7His Multiple submitters SLC35A1-congenital disorder of glycosylation

Likely benign 56

Uncertain significance 45