Sugi Variant

Sugi Variant/SCNN1G

SCNN1G — 379 ClinVar variants

All ClinVar germline SCNN1G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

8 Pathogenic · 11 Likely pathogenic · 29 Conflicting · 45 Benign · 13 Benign/Likely benign · 78 Likely benign · 195 Uncertain significance

Full SCNN1G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 14

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

Predictors lean, ClinVar uncertain 125

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

Predictors split 26

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

All SCNN1G variants

Pathogenic 8

  • p.Arg138Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 3
  • p.Leu51fs Single submitter
  • c.1570-1G>A No assertion criteria pseudohypoaldosteronism, type IB3, autosomal recessive
  • c.318-1G>A No assertion criteria pseudohypoaldosteronism, type IB3, autosomal recessive
  • p.Gln567Ter No assertion criteria Liddle syndrome 2
  • p.Glu583fs No assertion criteria Liddle syndrome 2
  • p.Trp573Ter No assertion criteria Liddle syndrome 2
  • p.Val543fs No assertion criteria pseudohypoaldosteronism, type IB3, autosomal recessive

Likely pathogenic 11

  • c.1176+1G>T Single submitter Renal tubulopathies
  • c.1431+1G>T Single submitter SCNN1G-related disorder
  • c.913+1G>T Single submitter
  • p.Arg440Ter Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Arg48fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Gln427fs Single submitter
  • p.Gln577Ter Single submitter SCNN1G-related disorder
  • p.Glu139fs Single submitter pseudohypoaldosteronism, type IB3, autosomal recessive
  • p.Trp31Ter Single submitter
  • p.Trp566Ter Single submitter
  • p.Trp56Ter Single submitter SCNN1G-related disorder

Conflicting classifications of pathogenicity 29

  • c.1078-17TGC[3] Single submitter Liddle syndrome 2
  • c.-23G>A Single submitter Liddle syndrome 2
  • c.*1147A>G Single submitter Liddle syndrome 2
  • c.*1370G>A Single submitter Liddle syndrome 2
  • c.*230C>T Single submitter Liddle syndrome 2
  • c.*328G>A Single submitter Liddle syndrome 2
  • c.*491G>A Single submitter Liddle syndrome 2
  • p.Arg180Trp Single submitter Liddle syndrome 2 ⚠
  • p.Arg564Cys Single submitter bronchiectasis with or without elevated sweat chloride 3 ⚠
  • p.Asn530Ser Single submitter bronchiectasis with or without elevated sweat chloride 3 ⚠
  • p.Asp600Asn Single submitter Liddle syndrome 2 ⚠
  • p.Asp647Tyr Single submitter Liddle syndrome 2 ⚠
  • p.Gln427His Single submitter bronchiectasis with or without elevated sweat chloride 3 ⚠
  • p.Glu133= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Glu361= Single submitter Liddle syndrome 2
  • p.Glu525= Single submitter Liddle syndrome 2
  • p.Gly621Ser Single submitter Liddle syndrome 2 ⚠
  • p.Ile44= Single submitter Liddle syndrome 2
  • p.Leu484= Single submitter Liddle syndrome 2
  • p.Leu609Phe Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Met517Lys Single submitter bronchiectasis with or without elevated sweat chloride 3 ⚠
  • p.Met517Thr Single submitter bronchiectasis with or without elevated sweat chloride 3 ⚠
  • p.Pro159= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Pro594_Ala595insPro Single submitter Liddle syndrome 2
  • p.Ser134Phe Single submitter ⚠
  • p.Thr259Asn Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Val110Ile Single submitter bronchiectasis with or without elevated sweat chloride 3 ⚠
  • p.Val146Ile Single submitter Liddle syndrome 2 ⚠
  • p.Val492= Single submitter Liddle syndrome 2

Benign 45

Benign/Likely benign 13

  • c.1432-7G>A Multiple submitters Liddle syndrome 2
  • c.1570-9G>A Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.*1261G>A Multiple submitters Liddle syndrome 2
  • p.Asn318= Multiple submitters
  • p.Glu197Lys Multiple submitters Liddle syndrome 2
  • p.Gly183= Multiple submitters Liddle syndrome 2
  • p.Gly183Ser Multiple submitters Liddle syndrome 2
  • p.His233= Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Leu649= Multiple submitters Liddle syndrome 2
  • p.Ser145= Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ser212= Multiple submitters Liddle syndrome 2
  • p.Val546Ile Multiple submitters
  • c.*1198A>T Single submitter Liddle syndrome 2

Likely benign 78

Uncertain significance 195