Sugi Variant

Sugi Variant/C3

C3 — 1798 ClinVar variants

All ClinVar germline C3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 836 flagged for review →

32 Pathogenic · 6 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 88 Conflicting · 130 Benign · 27 Benign/Likely benign · 570 Likely benign · 908 Uncertain significance

Full C3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 836

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 8

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 22

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

Predictors lean, ClinVar uncertain 443

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 443

Predictors split 363

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 363

All C3 variants

Pathogenic 32

Pathogenic/Likely pathogenic 6

  • p.Arg161Trp Multiple submitters atypical hemolytic-uremic syndrome with C3 anomaly ⚠
  • p.Arg592Gln Multiple submitters C3 glomerulonephritis ⚠
  • p.Arg764Ter Multiple submitters age related macular degeneration 9
  • p.Ile1157Thr Multiple submitters atypical hemolytic-uremic syndrome ⚠
  • p.Leu125fs Multiple submitters complement component 3 deficiency
  • p.Val942fs Multiple submitters atypical hemolytic-uremic syndrome with C3 anomaly

Likely pathogenic 37

Conflicting classifications of pathogenicity 88

  • c.1004-5C>T Single submitter
  • c.1119+10G>A Single submitter age related macular degeneration 9
  • c.1119+14C>T Single submitter complement component 3 deficiency
  • c.1480-4C>A Single submitter complement component 3 deficiency
  • c.2246-18_2246-17delinsTT Single submitter
  • c.2354+9G>A Single submitter kidney disorder
  • c.2441-16G>T Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • c.2441-6G>A Single submitter complement component 3 deficiency
  • c.2583+9C>T Single submitter age related macular degeneration 9
  • c.267+9A>G Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • c.2797-5C>T Single submitter complement component 3 deficiency
  • c.2863+15G>T Single submitter complement component 3 deficiency
  • c.2951-5_2951-3del Single submitter atypical hemolytic-uremic syndrome
  • c.3155-17CT[3] Single submitter age related macular degeneration 9
  • c.3489+2T>C Single submitter complement component 3 deficiency
  • c.3490-10T>G Single submitter
  • c.3970-15C>G Single submitter complement component 3 deficiency
  • c.4030-4C>T Single submitter atypical hemolytic-uremic syndrome
  • c.4850+12C>A Single submitter age related macular degeneration 9
  • c.683-4C>G Single submitter atypical hemolytic-uremic syndrome
  • c.774-4G>A Single submitter atypical hemolytic-uremic syndrome
  • p.Ala503Val Single submitter complement component 3 deficiency ⚠
  • p.Arg1491Trp Single submitter atypical hemolytic-uremic syndrome with C3 anomaly ⚠
  • p.Arg1512His Single submitter C3 glomerulonephritis ⚠
  • p.Arg343His Single submitter Inborn genetic diseases ⚠
  • p.Arg425Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg735Trp Single submitter atypical hemolytic-uremic syndrome ⚠
  • p.Arg736Gln Single submitter complement component 3 deficiency ⚠
  • p.Arg954His Single submitter C3-related disorder ⚠
  • p.Asn1137= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Asn1229= Single submitter atypical hemolytic-uremic syndrome
  • p.Asp1115Asn Single submitter atypical hemolytic-uremic syndrome ⚠
  • p.Asp1440Ala Single submitter atypical hemolytic-uremic syndrome with C3 anomaly ⚠
  • p.Asp1457His Single submitter complement component 3 deficiency ⚠
  • p.Asp641= Single submitter complement component 3 deficiency
  • p.Asp969= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Cys1101Trp Single submitter ⚠
  • p.Gln1184Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln1647= Single submitter complement component 3 deficiency
  • p.Glu279Lys Single submitter atypical hemolytic-uremic syndrome with C3 anomaly ⚠
  • p.Glu586= Single submitter complement component 3 deficiency
  • p.Glu689= Single submitter complement component 3 deficiency
  • p.Gly1044Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly1224Asp Single submitter complement component 3 deficiency ⚠
  • p.Gly310Arg Single submitter complement component 3 deficiency ⚠
  • p.Gly405= Single submitter complement component 3 deficiency
  • p.Gly684Ser Single submitter ⚠
  • p.Gly745= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • p.His1601= Single submitter complement component 3 deficiency
  • p.His16Gln Single submitter atypical hemolytic-uremic syndrome with C3 anomaly ⚠
  • p.Ile1367Thr Single submitter complement component 3 deficiency ⚠
  • p.Ile255Val Single submitter complement component 3 deficiency ⚠
  • p.Ile348Val Single submitter complement component 3 deficiency ⚠
  • p.Ile625Phe Single submitter age related macular degeneration 9 ⚠
  • p.Leu1318Arg Single submitter complement component 3 deficiency ⚠
  • p.Leu1549= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Leu1649= Single submitter age related macular degeneration 9
  • p.Leu9Pro Single submitter atypical hemolytic-uremic syndrome ⚠
  • p.Lys1419= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Lys155Gln Single submitter atypical hemolytic-uremic syndrome ⚠
  • p.Lys1589= Single submitter complement component 3 deficiency
  • p.Lys633Arg Single submitter complement component 3 deficiency ⚠
  • p.Lys65Gln Single submitter age related macular degeneration 9 ⚠
  • p.Lys904Asn Single submitter Inborn genetic diseases ⚠
  • p.Pro1587Ser Single submitter complement component 3 deficiency ⚠
  • p.Pro174= Single submitter atypical hemolytic-uremic syndrome
  • p.Pro366= Single submitter complement component 3 deficiency
  • p.Pro388= Single submitter complement component 3 deficiency
  • p.Pro629= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Pro933= Single submitter complement component 3 deficiency
  • p.Ser1008= Single submitter complement component 3 deficiency
  • p.Ser1063Asn Single submitter C3 glomerulonephritis ⚠
  • p.Ser1608= Single submitter complement component 3 deficiency
  • p.Ser1609= Single submitter complement component 3 deficiency
  • p.Ser1619Arg Single submitter complement component 3 deficiency ⚠
  • p.Ser562= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Ser562Leu Single submitter complement component 3 deficiency ⚠
  • p.Thr1188Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr1331= Single submitter age related macular degeneration 9
  • p.Thr1383Asn Single submitter complement component 3 deficiency ⚠
  • p.Thr162Arg Single submitter atypical hemolytic-uremic syndrome ⚠
  • p.Thr329= Single submitter age related macular degeneration 9
  • p.Tyr129Ter Single submitter C3 glomerulonephritis
  • p.Tyr227= Single submitter complement component 3 deficiency
  • p.Tyr490= Single submitter complement component 3 deficiency
  • p.Val1365= Single submitter complement component 3 deficiency
  • p.Val619Met Single submitter C3 glomerulonephritis ⚠
  • p.Val931= Single submitter atypical hemolytic-uremic syndrome with C3 anomaly

Benign 130

Benign/Likely benign 27

  • c.1119+15G>A Multiple submitters complement component 3 deficiency
  • c.1686+20G>A Multiple submitters atypical hemolytic-uremic syndrome with C3 anomaly
  • c.2245+15G>A Multiple submitters age related macular degeneration 9
  • c.2354+19C>T Multiple submitters atypical hemolytic-uremic syndrome with C3 anomaly
  • c.3811-73C>G Multiple submitters kidney disorder
  • c.3970-8C>T Multiple submitters atypical hemolytic-uremic syndrome
  • c.4457-5C>T Multiple submitters atypical hemolytic-uremic syndrome
  • c.4631-9C>T Multiple submitters atypical hemolytic-uremic syndrome
  • c.-3_-2dup Multiple submitters atypical hemolytic-uremic syndrome
  • p.Ala1286= Multiple submitters atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Arg102Gly Multiple submitters C3 glomerulonephritis
  • p.Arg1072= Multiple submitters complement component 3 deficiency
  • p.Arg1320= Multiple submitters atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Asn247= Multiple submitters atypical hemolytic-uremic syndrome
  • p.Cys728= Multiple submitters complement component 3 deficiency
  • p.Ile1385= Multiple submitters atypical hemolytic-uremic syndrome with C3 anomaly
  • p.Leu1549Met Multiple submitters complement component 3 deficiency
  • p.Leu967= Multiple submitters complement component 3 deficiency
  • p.Pro1251= Multiple submitters
  • p.Pro314Leu Multiple submitters C3 glomerulonephritis
  • p.Ser541= Multiple submitters complement component 3 deficiency
  • p.Ser798= Multiple submitters complement component 3 deficiency
  • p.Ser895= Multiple submitters complement component 3 deficiency
  • p.Thr1626= Multiple submitters complement component 3 deficiency
  • p.Thr448= Multiple submitters age related macular degeneration 9
  • p.Tyr1545= Multiple submitters age related macular degeneration 9
  • p.Tyr261= Multiple submitters atypical hemolytic-uremic syndrome

Likely benign 570

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 908

Showing the top 300 by review status; the full set is in the sitemap.