Sugi Variant

Sugi Variant/SEC61A1

SEC61A1 — 340 ClinVar variants

All ClinVar germline SEC61A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

5 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 25 Benign · 10 Benign/Likely benign · 170 Likely benign · 121 Uncertain significance

Full SEC61A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 2

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

Predictors lean, ClinVar uncertain 80

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

Predictors split 14

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

All SEC61A1 variants

Pathogenic 5

  • p.Phe62Leu Single submitter hyperuricemic nephropathy, familial juvenile type 4 ⚠
  • p.Thr185Ala Single submitter hyperuricemic nephropathy, familial juvenile type 4
  • p.Gln92Arg No assertion criteria neutropenia, severe congenital, 11, autosomal dominant
  • p.Glu381Ter No assertion criteria immunodeficiency, common variable, 15
  • p.Val67Gly No assertion criteria hyperuricemic nephropathy, familial juvenile type 4

Likely pathogenic 4

  • p.Leu89Phe Multiple submitters hyperuricemic nephropathy, familial juvenile type 4
  • p.Phe458Val Single submitter
  • p.Val85Asp Single submitter Decreased circulating immunoglobulin concentration
  • p.Ile428Met No assertion criteria

Conflicting classifications of pathogenicity 5

Benign 25

Benign/Likely benign 10

Likely benign 170

Uncertain significance 121