Sugi Variant

Sugi Variant/SCNN1B

SCNN1B — 482 ClinVar variants

All ClinVar germline SCNN1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 228 flagged for review →

17 Pathogenic · 6 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 49 Conflicting · 29 Benign · 17 Benign/Likely benign · 97 Likely benign · 242 Uncertain significance

Full SCNN1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 228

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 23

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

Predictors lean, ClinVar uncertain 169

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 169

Predictors split 33

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

All SCNN1B variants

Pathogenic 17

  • p.Arg566Ter Multiple submitters Liddle syndrome 1
  • c.1404+1G>T Single submitter pseudohypoaldosteronism, type IB2, autosomal recessive
  • p.Asn34fs Single submitter Renal tubulopathies
  • p.Glu465fs Single submitter
  • p.Glu583Ter Single submitter
  • p.Pro617Leu Single submitter Liddle syndrome 1 ⚠
  • p.Ser180Ter Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Trp277Ter Single submitter
  • c.1271-1G>C No assertion criteria pseudohypoaldosteronism, type IB2, autosomal recessive
  • c.1346+1G>A No assertion criteria pseudohypoaldosteronism, type IB2, autosomal recessive
  • c.1543-2A>G No assertion criteria bronchiectasis with or without elevated sweat chloride 1
  • p.Ala579Leufs*4 No assertion criteria Liddle syndrome 1
  • p.Glu539Lys No assertion criteria bronchiectasis with or without elevated sweat chloride 1
  • p.Pro616Arg No assertion criteria Liddle syndrome 1 ⚠
  • p.Trp28Ter No assertion criteria pseudohypoaldosteronism, type IB2, autosomal recessive
  • p.Tyr29Ter No assertion criteria pseudohypoaldosteronism, type IB2, autosomal recessive
  • p.Tyr620His No assertion criteria Liddle syndrome 1 ⚠

Pathogenic/Likely pathogenic 6

Likely pathogenic 25

  • c.1543-1G>T Single submitter SCNN1B-related disorder
  • c.586-1G>A Single submitter
  • p.Ala228fs Single submitter SCNN1B-related disorder
  • p.Ala595fs Single submitter Liddle syndrome 1
  • p.Arg410fs Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Asn496Ser Single submitter Liddle syndrome 1 ⚠
  • p.Asp31fs Single submitter SCNN1B-related disorder
  • p.Gln352Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Gln392Ter Single submitter SCNN1B-related disorder
  • p.Glu322Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Glu438fs Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Glu580Ter Single submitter
  • p.Gly19fs Single submitter SCNN1B-related disorder
  • p.Gly278fs Single submitter
  • p.Pro267Leu Single submitter Liddle syndrome 1 ⚠
  • p.Pro617Thr Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Pro618Arg Single submitter Liddle syndrome 1
  • p.Trp218Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Tyr219Asp Single submitter pseudohypoaldosteronism, type IB2, autosomal recessive ⚠
  • p.Tyr266Ter Single submitter SCNN1B-related disorder
  • p.Tyr358Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Tyr404Ter Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Gly188_Cys189insTer No assertion criteria SCNN1B-related disorder
  • p.Leu537Phe No assertion criteria opsoclonus-myoclonus syndrome ⚠
  • p.Tyr240Ter No assertion criteria SCNN1B-related disorder

Conflicting classifications of pathogenicity 49

  • c.1270+11G>T Single submitter Liddle syndrome 1
  • c.1270+14C>T Single submitter bronchiectasis with or without elevated sweat chloride 1
  • c.1346+8C>T Single submitter bronchiectasis with or without elevated sweat chloride 1
  • c.1404+7C>T Single submitter bronchiectasis with or without elevated sweat chloride 1
  • c.1466+18C>T Single submitter bronchiectasis with or without elevated sweat chloride 1
  • c.586-15T>C Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • c.880+10G>A Single submitter
  • p.Ala569Val Single submitter pruritus, hereditary localized ⚠
  • p.Ala60Thr Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Arg156Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg156Trp Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Arg206Gln Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Arg388His Single submitter ⚠
  • p.Arg397His Single submitter Inborn genetic diseases ⚠
  • p.Arg397Leu Single submitter Liddle syndrome 1 ⚠
  • p.Arg410His Single submitter Inborn genetic diseases ⚠
  • p.Arg563Gln Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Arg565Gln Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Arg566Gln Single submitter ⚠
  • p.Arg597Cys Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Arg597His Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Asp629= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Asp634His Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Gln233His Single submitter Inborn genetic diseases ⚠
  • p.Glu468Lys Single submitter ⚠
  • p.Gly315Arg Single submitter pseudohypoaldosteronism, type IB2, autosomal recessive ⚠
  • p.Gly37Ser Single submitter SCNN1B-related disorder ⚠
  • p.His187= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.His2= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.His473= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ile344= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Ile515= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Leu555= Single submitter
  • p.Leu562= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Met459Thr Single submitter Inborn genetic diseases ⚠
  • p.Met51Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe588= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Pro407= Single submitter Liddle syndrome 1
  • p.Pro617fs Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Ser143Phe Single submitter pseudohypoaldosteronism, type IB2, autosomal recessive ⚠
  • p.Ser286Leu Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Ser520= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Ser82= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Thr586Ile Single submitter bronchiectasis with or without elevated sweat chloride 1 ⚠
  • p.Tyr306= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Tyr335= Single submitter bronchiectasis with or without elevated sweat chloride 1
  • p.Tyr571= Single submitter pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Val370Ile Single submitter Inborn genetic diseases ⚠
  • p.Val630Ile Single submitter Inborn genetic diseases ⚠

Benign 29

Benign/Likely benign 17

  • c.1152+10T>C Multiple submitters pseudohypoaldosteronism, type IB2, autosomal recessive
  • c.1466+13C>G Multiple submitters
  • c.1467-14G>A Multiple submitters Liddle syndrome 1
  • c.1543-17C>T Multiple submitters
  • c.777-5T>C Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Ala94= Multiple submitters Liddle syndrome 1
  • p.Arg388Cys Multiple submitters Liddle syndrome 1 ⚠
  • p.Asp419= Multiple submitters bronchiectasis with or without elevated sweat chloride 1
  • p.Gly442Val Multiple submitters Liddle syndrome 1
  • p.Gly589Ser Multiple submitters pseudohypoaldosteronism, type IB1, autosomal recessive
  • p.Leu628Gln Multiple submitters bronchiectasis with or without elevated sweat chloride 1
  • p.Lys49= Multiple submitters bronchiectasis with or without elevated sweat chloride 1
  • p.Phe293= Multiple submitters Liddle syndrome 1
  • p.Ser467= Multiple submitters Liddle syndrome 1
  • p.Thr577= Multiple submitters Liddle syndrome 1
  • p.Thr594= Multiple submitters Liddle syndrome 1
  • p.Thr594Met Multiple submitters

Likely benign 97

Uncertain significance 242