Sugi Variant

Sugi Variant/SCNN1A

SCNN1A — 447 ClinVar variants

All ClinVar germline SCNN1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

22 Pathogenic · 5 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 38 Conflicting · 25 Benign · 17 Benign/Likely benign · 81 Likely benign · 243 Uncertain significance

Full SCNN1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 195

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 16

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 151

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 151

Predictors split 26

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

All SCNN1A variants

Pathogenic 22

  • c.1360+2T>G Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Arg192fs Multiple submitters SCNN1A-related disorder
  • p.Arg492Ter Multiple submitters Liddle syndrome 3
  • p.Arg56Ter Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ile68fs Multiple submitters SCNN1A-related disorder
  • p.Thr169fs Multiple submitters Liddle syndrome 3
  • p.Tyr436fs Multiple submitters SCNN1A-related disorder
  • p.Tyr484fs Multiple submitters bronchiectasis with or without elevated sweat chloride 2
  • c.1361-3C>G Single submitter bronchiectasis with or without elevated sweat chloride 2
  • c.875+2dup Single submitter
  • p.Cys445fs Single submitter
  • p.Glu50fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.His296fs Single submitter
  • p.Lys410fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Phe95fs Single submitter
  • p.Pro185fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ser507Ter Single submitter
  • p.Tyr458_Lys459delinsTer Single submitter
  • p.Val245fs Single submitter SCNN1A-related disorder
  • p.Val351fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.1361-2A>G No assertion criteria pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Arg81Cys No assertion criteria bronchiectasis with or without elevated sweat chloride 2 ⚠

Pathogenic/Likely pathogenic 5

  • c.1439+1G>A Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.875+1G>A Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Arg508Ter Multiple submitters bronchiectasis with or without elevated sweat chloride 2
  • p.Phe528del Multiple submitters Renal tubulopathies
  • p.Tyr252fs Multiple submitters SCNN1A-related disorder

Likely pathogenic 16

  • c.685-1G>A Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.1439+1G>T Single submitter SCNN1A-related disorder
  • c.979+1G>A Single submitter Liddle syndrome 3
  • c.-54-1G>A Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Arg202Ter Single submitter
  • p.Asn24fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Asn315fs Single submitter idiopathic bronchiectasis
  • p.Glu7fs Single submitter bronchiectasis with or without elevated sweat chloride 2
  • p.Gly327Cys Single submitter Liddle syndrome 3
  • p.Gly560Ser Single submitter
  • p.Leu267fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ser12Ter Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ser562Leu Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Trp219fs Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Tyr112Ter Single submitter
  • c.875+3_875+6del No assertion criteria SCNN1A-related disorder

Conflicting classifications of pathogenicity 38

  • c.1144-14A>G Single submitter Liddle syndrome 3
  • c.1497+6G>C Single submitter bronchiectasis with or without elevated sweat chloride 2
  • c.1554-6C>G Single submitter SCNN1A-related disorder
  • c.1554-6C>T Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.417-15C>T Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.876-13C>T Single submitter bronchiectasis with or without elevated sweat chloride 2
  • c.-54-14C>T Single submitter bronchiectasis with or without elevated sweat chloride 2
  • c.-55+2T>C Single submitter bronchiectasis with or without elevated sweat chloride 2 ⚠
  • c.*113C>T Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.*296C>T Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.*467C>A Single submitter bronchiectasis with or without elevated sweat chloride 2
  • c.*914A>G Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ala602Val Single submitter bronchiectasis with or without elevated sweat chloride 2 ⚠
  • p.Ala645= Single submitter bronchiectasis with or without elevated sweat chloride 2
  • p.Arg249Lys Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Arg333Cys Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Arg370Gln Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Arg476Gln Single submitter ⚠
  • p.Arg589Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg591Ter Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Arg650His Single submitter Inborn genetic diseases ⚠
  • p.Asp390Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys479Arg Single submitter bronchiectasis with or without elevated sweat chloride 2 ⚠
  • p.Glu358Gly Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Gly276Cys Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Gly520Ala Single submitter Liddle syndrome 3 ⚠
  • p.Gly601Arg Single submitter bronchiectasis with or without elevated sweat chloride 2 ⚠
  • p.Leu406Ile Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Phe280= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Pro669fs Single submitter
  • p.Ser465Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser495= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ser495Leu Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Ser507Leu Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive ⚠
  • p.Ser562= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Thr266Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr42= Single submitter bronchiectasis with or without elevated sweat chloride 2
  • p.Tyr433= Single submitter bronchiectasis with or without elevated sweat chloride 2

Benign 25

Benign/Likely benign 17

  • c.684+12dup Multiple submitters
  • c.684+9C>T Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.-28T>C Multiple submitters bronchiectasis with or without elevated sweat chloride 2
  • c.-48A>G Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.-55+5G>C Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.*633G>T Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.*70T>C Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ala334Thr Multiple submitters bronchiectasis with or without elevated sweat chloride 2
  • p.Arg181Trp Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Asn326= Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Leu180= Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Pro33= Multiple submitters bronchiectasis with or without elevated sweat chloride 2
  • p.Trp493Arg Multiple submitters bronchiectasis with or without elevated sweat chloride 2
  • p.Val573Ile Multiple submitters bronchiectasis with or without elevated sweat chloride 2
  • c.-69C>T Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.*509T>G Single submitter bronchiectasis with or without elevated sweat chloride 2
  • c.*920C>T Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive

Likely benign 81

Uncertain significance 243