Sugi Variant

Sugi Variant/SLC16A2

SLC16A2 — 440 ClinVar variants

All ClinVar germline SLC16A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

64 Pathogenic · 7 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 24 Conflicting · 23 Benign · 18 Benign/Likely benign · 91 Likely benign · 178 Uncertain significance

Full SLC16A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 180

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 3

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

Predictors agree, ClinVar conflicts 18

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

Predictors lean, ClinVar uncertain 128

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

Predictors split 31

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

All SLC16A2 variants

Pathogenic 64

  • c.1399+1G>A Multiple submitters Spastic paraplegia
  • p.Arg171Ter Multiple submitters Spastic paraplegia
  • p.Arg314Ter Multiple submitters SLC16A2-related disorder
  • p.Gln16Ter Multiple submitters Spastic paraplegia
  • p.Gln52Ter Multiple submitters Spastic paraplegia
  • p.Glu9Ter Multiple submitters Allan-Herndon-Dudley syndrome
  • p.Ser120fs Multiple submitters Spastic paraplegia
  • c.1026+1G>A Single submitter Allan-Herndon-Dudley syndrome
  • c.1026+1G>C Single submitter Spastic paraplegia
  • c.1026+1G>T Single submitter Allan-Herndon-Dudley syndrome
  • c.1170+1G>A Single submitter Allan-Herndon-Dudley syndrome
  • c.1170+4_1170+7del Single submitter Allan-Herndon-Dudley syndrome
  • c.431-2A>G Single submitter Allan-Herndon-Dudley syndrome
  • c.576-1G>C Single submitter Hypotonia
  • c.-6_430+5del Single submitter Allan-Herndon-Dudley syndrome
  • p.Ala178fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Ala365fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Arg297Ser Single submitter ⚠
  • p.Arg371fs Single submitter Spastic paraplegia
  • p.Arg86fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Asn136fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Asn232fs Single submitter Spastic paraplegia
  • p.Gln214Ter Single submitter Spastic paraplegia
  • p.Gln22Ter Single submitter Spastic paraplegia
  • p.Gln261Ter Single submitter Inborn genetic diseases
  • p.Gln306Ter Single submitter Allan-Herndon-Dudley syndrome
  • p.Gln56fs Single submitter
  • p.Gln93Ter Single submitter Allan-Herndon-Dudley syndrome
  • p.Glu10Ter Single submitter Inborn genetic diseases
  • p.Glu34fs Single submitter Spastic paraplegia
  • p.Glu40Ter Single submitter Allan-Herndon-Dudley syndrome
  • p.Glu68Ter Single submitter Spastic paraplegia
  • p.Glu78Ter Single submitter Allan-Herndon-Dudley syndrome
  • p.Gly147Arg Single submitter Allan-Herndon-Dudley syndrome
  • p.Gly398Asp Single submitter Spastic paraplegia
  • p.Gly421Val Single submitter Allan-Herndon-Dudley syndrome
  • p.Gly91fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Ile448fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Ile465fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Leu128Pro Single submitter Inborn genetic diseases
  • p.Leu284fs Single submitter
  • p.Leu397Pro Single submitter intellectual disability
  • p.Leu3fs Single submitter Spastic paraplegia
  • p.Leu528fs Single submitter Inborn genetic diseases
  • p.Met1Arg Single submitter Spastic paraplegia
  • p.Phe426fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Pro215Gln Single submitter Inborn genetic diseases
  • p.Pro458fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Pro522fs Single submitter Spastic paraplegia
  • p.Trp109Ter Single submitter
  • p.Trp145Ter Single submitter Allan-Herndon-Dudley syndrome
  • p.Trp324Ter Single submitter Allan-Herndon-Dudley syndrome
  • p.Trp357Ter Single submitter Allan-Herndon-Dudley syndrome
  • p.Tyr125fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Tyr321_Ala332del Single submitter Spastic paraplegia
  • p.Tyr339fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Val492fs Single submitter Allan-Herndon-Dudley syndrome
  • p.Ala332fs No assertion criteria Allan-Herndon-Dudley syndrome
  • p.Gln288fs No assertion criteria Allan-Herndon-Dudley syndrome
  • p.Leu360Trp No assertion criteria Allan-Herndon-Dudley syndrome
  • p.Leu438Pro No assertion criteria Allan-Herndon-Dudley syndrome
  • p.Leu494Pro No assertion criteria Allan-Herndon-Dudley syndrome
  • p.Pro538fs No assertion criteria Allan-Herndon-Dudley syndrome
  • p.Ser374Ter No assertion criteria Allan-Herndon-Dudley syndrome

Pathogenic/Likely pathogenic 7

  • c.576-1G>A Multiple submitters Spastic paraplegia
  • p.Ala150Val Multiple submitters Allan-Herndon-Dudley syndrome ⚠
  • p.Arg371Cys Multiple submitters SLC16A2-related disorder
  • p.Gly327Arg Multiple submitters Spastic paraplegia
  • p.Phe156del Multiple submitters Allan-Herndon-Dudley syndrome
  • p.Ser33fs Multiple submitters Allan-Herndon-Dudley syndrome
  • p.Val218fs Multiple submitters Allan-Herndon-Dudley syndrome

Likely pathogenic 35

Conflicting classifications of pathogenicity 24

Benign 23

Benign/Likely benign 18

  • c.-114GGCAGC[2] Multiple submitters
  • c.-114GGCAGC[4] Multiple submitters Inborn genetic diseases
  • p.Ala212Thr Multiple submitters Spastic paraplegia
  • p.Ala89Thr Multiple submitters Inborn genetic diseases
  • p.Arg226Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg302His Multiple submitters Inborn genetic diseases
  • p.Arg408Gln Multiple submitters Spastic paraplegia
  • p.Arg408Trp Multiple submitters Inborn genetic diseases
  • p.Gly25Arg Multiple submitters Inborn genetic diseases
  • p.Leu275= Multiple submitters Spastic paraplegia
  • p.Met1Leu Multiple submitters Inborn genetic diseases
  • p.Pro291= Multiple submitters Inborn genetic diseases
  • p.Pro41= Multiple submitters Inborn genetic diseases
  • p.Pro530= Multiple submitters Inborn genetic diseases
  • p.Ser33Pro Multiple submitters Inborn genetic diseases
  • p.Thr175= Multiple submitters Spastic paraplegia
  • p.Tyr450= Multiple submitters Inborn genetic diseases
  • p.Val180Ile Multiple submitters Inborn genetic diseases

Likely benign 91

Uncertain significance 178