Sugi Variant

Sugi Variant/SLC16A1

SLC16A1 — 343 ClinVar variants

All ClinVar germline SLC16A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

10 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 14 Conflicting · 11 Benign · 5 Benign/Likely benign · 93 Likely benign · 198 Uncertain significance

Full SLC16A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 5

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

Predictors lean, ClinVar uncertain 114

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

Predictors split 27

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

All SLC16A1 variants

Pathogenic 10

  • p.Arg313Ter Multiple submitters ketoacidosis due to monocarboxylate transporter-1 deficiency
  • c.218delG Single submitter
  • p.Ala360fs Single submitter exercise-induced hyperinsulinism
  • p.Arg143Ter Single submitter
  • p.Arg196Ter Single submitter ketoacidosis due to monocarboxylate transporter-1 deficiency
  • p.Arg328Ter Single submitter exercise-induced hyperinsulinism
  • p.Asp225fs Single submitter
  • p.Gln240fs Single submitter SLC16A1-related disorder
  • p.Tyr113Ter Single submitter SLC16A1-related disorder
  • p.Val68fs Single submitter SLC16A1-related disorder

Pathogenic/Likely pathogenic 2

  • p.Asn250fs Multiple submitters ketoacidosis due to monocarboxylate transporter-1 deficiency
  • p.Val167fs Multiple submitters

Likely pathogenic 10

  • p.Arg243Ter Single submitter
  • p.Gln110Ter Single submitter exercise-induced hyperinsulinism
  • p.Gln385Ter Single submitter ketoacidosis due to monocarboxylate transporter-1 deficiency
  • p.Gly25Val Single submitter ketoacidosis due to monocarboxylate transporter-1 deficiency
  • p.Leu164fs Single submitter
  • p.Leu255Ter Single submitter
  • p.Leu403Phe Single submitter ketoacidosis due to monocarboxylate transporter-1 deficiency ⚠
  • p.Pro14fs Single submitter ketoacidosis due to monocarboxylate transporter-1 deficiency
  • p.Ser33fs Single submitter exercise-induced hyperinsulinism
  • p.Ser33Xaa Single submitter

Conflicting classifications of pathogenicity 14

Benign 11

Benign/Likely benign 5

  • c.362-58TATT[8] Multiple submitters exercise-induced hyperinsulinism
  • c.362-58TATT[9] Multiple submitters
  • p.Ala334= Multiple submitters exercise-induced hyperinsulinism
  • p.Ile325Val Multiple submitters metabolic myopathy due to lactate transporter defect
  • p.Val428Ile Multiple submitters exercise-induced hyperinsulinism

Likely benign 93

Uncertain significance 198