Sugi Variant

Sugi Variant/SLC17A5

SLC17A5 — 609 ClinVar variants

All ClinVar germline SLC17A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

31 Pathogenic · 28 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 11 Conflicting · 49 Benign · 6 Benign/Likely benign · 222 Likely benign · 195 Uncertain significance

Full SLC17A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 7

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

Predictors lean, ClinVar uncertain 124

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 SLC17A5 variants

Pathogenic 31

Pathogenic/Likely pathogenic 28

  • c.1111+1G>A Multiple submitters Salla disease
  • c.1259+1G>A Multiple submitters Salla disease
  • c.1260-2A>C Multiple submitters Salla disease
  • c.979-1G>T Multiple submitters Salla disease
  • p.Ala169_Leu170insTer Multiple submitters Salla disease
  • p.Arg39His Multiple submitters free sialic acid storage disease, infantile form
  • p.Asn302fs Multiple submitters free sialic acid storage disease, infantile form
  • p.Asp69fs Multiple submitters Salla disease
  • p.Gln207Ter Multiple submitters Salla disease
  • p.Gln277Ter Multiple submitters free sialic acid storage disease, infantile form
  • p.Gly374fs Multiple submitters Salla disease
  • p.Gly49fs Multiple submitters free sialic acid storage disease, infantile form
  • p.Ile266fs Multiple submitters Salla disease
  • p.Leu270Ter Multiple submitters Salla disease
  • p.Leu333fs Multiple submitters Salla disease
  • p.Met137fs Multiple submitters Salla disease
  • p.Phe233fs Multiple submitters Salla disease
  • p.Pro334Arg Multiple submitters Salla disease
  • p.Ser249fs Multiple submitters free sialic acid storage disease, infantile form
  • p.Ser408fs Multiple submitters Salla disease
  • p.Thr178fs Multiple submitters Salla disease
  • p.Thr97= Multiple submitters Salla disease
  • p.Trp240Ter Multiple submitters Salla disease
  • p.Trp246Ter Multiple submitters SLC17A5-related disorder
  • p.Trp339Ter Multiple submitters free sialic acid storage disease, infantile form
  • p.Tyr223fs Multiple submitters Salla disease
  • p.Tyr228Ter Multiple submitters Salla disease
  • p.Val453fs Multiple submitters Salla disease

Likely pathogenic 67

  • c.1109_1111+2del Multiple submitters SLC17A5-related disorder
  • c.1111+1G>T Multiple submitters Salla disease
  • c.613+1G>A Multiple submitters Salla disease
  • c.700+2T>C Multiple submitters Salla disease
  • c.979-2A>G Multiple submitters Salla disease
  • p.Arg57Cys Multiple submitters Salla disease
  • p.Gln96Ter Multiple submitters Salla disease
  • p.Glu262Asp Multiple submitters Salla disease
  • p.Glu264Ter Multiple submitters free sialic acid storage disease, infantile form
  • p.Gly409Glu Multiple submitters Salla disease
  • p.His183Arg Multiple submitters Salla disease
  • c.1259+1G>T Single submitter Salla disease
  • c.1350+1G>A Single submitter Salla disease
  • c.291+1G>A Single submitter
  • c.525+1G>C Single submitter Salla disease
  • c.579_580insAlu Single submitter Salla disease
  • c.613+2T>A Single submitter Salla disease
  • c.614-1G>A Single submitter Salla disease
  • c.701-1G>A Single submitter Salla disease
  • c.95-1G>A Single submitter Salla disease
  • c.95-1G>T Single submitter Salla disease
  • c.978+1G>A Single submitter Salla disease
  • p.Ala204fs Single submitter Salla disease
  • p.Arg168fs Single submitter free sialic acid storage disease, infantile form
  • p.Asn413fs Single submitter free sialic acid storage disease
  • p.Asp350fs Single submitter free sialic acid storage disease, infantile form
  • p.Cys341fs Single submitter Salla disease
  • p.Gln123fs Single submitter Salla disease
  • p.Gln325Ter Single submitter Salla disease
  • p.Glu85fs Single submitter Salla disease
  • p.Gly140Ter Single submitter free sialic acid storage disease, infantile form
  • p.Gly176Val Single submitter free sialic acid storage disease, infantile form
  • p.Gly328Glu Single submitter Salla disease
  • p.Gly346fs Single submitter free sialic acid storage disease, infantile form
  • p.Gly371Arg Single submitter free sialic acid storage disease, infantile form
  • p.Ile366delinsCysValTer Single submitter free sialic acid storage disease, infantile form
  • p.Leu193fs Single submitter free sialic acid storage disease, infantile form
  • p.Leu242fs Single submitter free sialic acid storage disease, infantile form
  • p.Leu286Ter Single submitter free sialic acid storage disease, infantile form
  • p.Leu74Ter Single submitter Salla disease
  • p.Lys136Arg Single submitter Salla disease ⚠
  • p.Met182fs Single submitter free sialic acid storage disease, infantile form
  • p.Phe232fs Single submitter free sialic acid storage disease, infantile form
  • p.Phe305fs Single submitter free sialic acid storage disease, infantile form
  • p.Pro163fs Single submitter free sialic acid storage disease, infantile form
  • p.Pro436fs Single submitter Salla disease
  • p.Ser131fs Single submitter free sialic acid storage disease, infantile form
  • p.Ser331fs Single submitter free sialic acid storage disease, infantile form
  • p.Ser399Ter Single submitter Salla disease
  • p.Thr146delinsAsnSerTer Single submitter free sialic acid storage disease, infantile form
  • p.Thr153fs Single submitter free sialic acid storage disease, infantile form
  • p.Thr97fs Single submitter Salla disease
  • p.Trp186Ter Single submitter free sialic acid storage disease, infantile form
  • p.Trp226Ter Single submitter free sialic acid storage disease, infantile form
  • p.Trp246fs Single submitter Salla disease
  • p.Trp282fs Single submitter Salla disease
  • p.Tyr203fs Single submitter Salla disease
  • p.Tyr231Ter Single submitter free sialic acid storage disease, infantile form
  • p.Tyr301Ter Single submitter free sialic acid storage disease, infantile form
  • c.467_525+125del No assertion criteria free sialic acid storage disease, infantile form
  • c.820-2A>C No assertion criteria Salla disease
  • p.Ala376fs No assertion criteria Salla disease
  • p.Gly403fs No assertion criteria Salla disease
  • p.Phe141fs No assertion criteria Salla disease
  • p.Thr72fs No assertion criteria Salla disease
  • p.Trp240fs No assertion criteria Salla disease
  • p.Tyr128Ter No assertion criteria Salla disease

Conflicting classifications of pathogenicity 11

Benign 49

Benign/Likely benign 6

  • c.1111+7G>A Multiple submitters free sialic acid storage disease, infantile form
  • c.1112-18A>G Multiple submitters Salla disease
  • c.1351-23G>A Multiple submitters
  • c.820-3C>T Multiple submitters Salla disease
  • p.Met185Val Multiple submitters Inborn genetic diseases
  • p.Val296Ile Multiple submitters free sialic acid storage disease, infantile form

Likely benign 222

Uncertain significance 195