Sugi Variant

Sugi Variant/SEPSECS

SEPSECS — 626 ClinVar variants

All ClinVar germline SEPSECS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

35 Pathogenic · 19 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 19 Conflicting · 32 Benign · 4 Benign/Likely benign · 290 Likely benign · 185 Uncertain significance

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

⚑ Evidence disagreements 131

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 3

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

Predictors lean, ClinVar uncertain 96

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 SEPSECS variants

Pathogenic 35

Pathogenic/Likely pathogenic 19

  • c.808dup Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Ala239Thr Multiple submitters pontocerebellar hypoplasia
  • p.Arg156Ter Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Arg169Ter Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Arg271Ter Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Arg97Ter Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Cys151fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Gln105Ter Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Gln390fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Glu343fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.His383fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Leu150fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Leu55fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Lys161fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Ser14Ter Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Ser307fs Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Ser393Ter Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Val205fs Multiple submitters Inborn genetic diseases
  • p.Val279fs Multiple submitters pontocerebellar hypoplasia type 2D

Likely pathogenic 42

  • c.1027-2A>G Multiple submitters pontocerebellar hypoplasia type 2D
  • c.389-13_404del Multiple submitters pontocerebellar hypoplasia type 2D
  • c.389-1G>A Multiple submitters pontocerebellar hypoplasia type 2D
  • c.547+1G>C Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Asn65Ser Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Gly441Arg Multiple submitters pontocerebellar hypoplasia type 2D
  • c.1026+1G>T Single submitter
  • c.1121-1G>T Single submitter
  • c.115-1G>C Single submitter
  • c.1213del Single submitter pontocerebellar hypoplasia type 2D
  • c.269+2T>C Single submitter
  • c.388+1G>A Single submitter
  • c.548-1G>C Single submitter pontocerebellar hypoplasia type 2D
  • c.701+1G>A Single submitter
  • c.702-3_705del Single submitter
  • c.805-1G>T Single submitter pontocerebellar hypoplasia type 2D
  • c.805-2A>G Single submitter
  • c.935-2A>G Single submitter
  • p.Ala85fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Asn119Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn299fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Asn65_Phe66insTer Single submitter pontocerebellar hypoplasia type 2D
  • p.Gln20Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Gln210Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Gln390Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Gln399Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Glu211Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Glu482Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Glu4fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Gly297fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Ile217fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Ile250fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Leu337fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Phe184_Glu185insTer Single submitter pontocerebellar hypoplasia type 2D
  • p.Phe278fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Ser147Asn Single submitter pontocerebellar hypoplasia type 2D
  • p.Ser356fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Thr133fs Single submitter pontocerebellar hypoplasia type 2D
  • p.Thr325Ser Single submitter pontocerebellar hypoplasia type 2D
  • p.Tyr255Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Tyr433His Single submitter pontocerebellar hypoplasia type 2D
  • c.1028_1120+1del No assertion criteria cerebellar ataxia

Conflicting classifications of pathogenicity 19

  • c.1027-7G>A Single submitter pontocerebellar hypoplasia type 2D
  • c.1120+5T>C Single submitter Inborn genetic diseases
  • c.1120+8C>A Single submitter pontocerebellar hypoplasia type 2D
  • c.388+3A>G Single submitter pontocerebellar hypoplasia type 2D
  • c.388+5G>A Single submitter pontocerebellar hypoplasia type 2D
  • c.389-10T>C Single submitter pontocerebellar hypoplasia type 2D
  • c.389-8A>C Single submitter pontocerebellar hypoplasia type 2D
  • c.548-1G>A Single submitter pontocerebellar hypoplasia type 2D
  • p.Arg465Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Asp489Val Single submitter pontocerebellar hypoplasia ⚠
  • p.Glu464Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Gly256Ter Single submitter pontocerebellar hypoplasia type 2D
  • p.Leu282= Single submitter pontocerebellar hypoplasia
  • p.Lys163= Single submitter
  • p.Met1Val Single submitter pontocerebellar hypoplasia type 2D
  • p.Ser260= Single submitter pontocerebellar hypoplasia type 2D
  • p.Ser393Leu Single submitter SEPSECS-related disorder ⚠
  • p.Tyr334His Single submitter pontocerebellar hypoplasia type 2D ⚠
  • p.Tyr429Ter Single submitter pontocerebellar hypoplasia type 2D

Benign 32

Benign/Likely benign 4

  • c.115-18dup Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Arg341= Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Pro15= Multiple submitters pontocerebellar hypoplasia type 2D
  • p.Thr376= Multiple submitters pontocerebellar hypoplasia type 2D

Likely benign 290

Uncertain significance 185