Sugi Variant

Sugi Variant/SLC5A6

SLC5A6 — 134 ClinVar variants

All ClinVar germline SLC5A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

6 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Conflicting · 9 Benign · 36 Likely benign · 70 Uncertain significance

Full SLC5A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 75

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 53

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

Predictors split 16

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

All SLC5A6 variants

Pathogenic 6

  • p.Arg94Ter Multiple submitters peripheral motor neuropathy, childhood-onset, biotin-responsive
  • c.1005+1G>A Single submitter neurodegeneration, infantile-onset, biotin-responsive
  • p.Arg142Ter Single submitter
  • p.Gln277Ter Single submitter
  • p.Arg123Leu No assertion criteria neurodegeneration, infantile-onset, biotin-responsive
  • p.Arg400Thr No assertion criteria neurodegeneration, infantile-onset, biotin-responsive

Pathogenic/Likely pathogenic 3

  • c.393+2T>C Multiple submitters neurodegeneration, infantile-onset, biotin-responsive
  • p.Ser429Gly Multiple submitters peripheral motor neuropathy, childhood-onset, biotin-responsive ⚠
  • p.Val141fs Multiple submitters neurodegeneration, infantile-onset, biotin-responsive

Likely pathogenic 5

  • p.Gln622fs Multiple submitters peripheral motor neuropathy, childhood-onset, biotin-responsive
  • c.1648+2T>G Single submitter neurodegeneration, infantile-onset, biotin-responsive
  • c.460-19T>G Single submitter neurodegeneration, infantile-onset, biotin-responsive
  • p.Phe468fs Single submitter neurodegeneration, infantile-onset, biotin-responsive
  • p.Tyr319Ter Single submitter neurodegeneration, infantile-onset, biotin-responsive

Conflicting classifications of pathogenicity 5

  • p.Arg394Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly272Arg Single submitter neurodegeneration, infantile-onset, biotin-responsive ⚠
  • p.Ile428Val Single submitter neurodegeneration, infantile-onset, biotin-responsive ⚠
  • p.Met61Lys Single submitter neurodegeneration, infantile-onset, biotin-responsive ⚠
  • p.Pro437Leu Single submitter neurodegeneration, infantile-onset, biotin-responsive ⚠

Benign 9

Likely benign 36

Uncertain significance 70