Sugi Variant

Sugi Variant/RERE

RERE — 1155 ClinVar variants

All ClinVar germline RERE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 604 flagged for review →

22 Pathogenic · 10 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 60 Conflicting · 51 Benign · 32 Benign/Likely benign · 307 Likely benign · 635 Uncertain significance

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

⚑ Evidence disagreements 604

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 4

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

Predictors agree, ClinVar conflicts 32

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

Predicted LoF vs a conflicting call 3

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 330

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 330

Predictors split 235

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 235

All RERE variants

Pathogenic 22

  • p.1436LH[1] Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • c.-144-39763_522+14373del Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Arg1196Ter Single submitter Inborn genetic diseases
  • p.Arg1229fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Arg1416Ter Single submitter
  • p.Gln1031Ter Single submitter Inborn genetic diseases
  • p.Gln1440Arg Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.Gln283fs Single submitter
  • p.Gln880fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Glu1486Ter Single submitter
  • p.Glu258fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.His1433Tyr Single submitter
  • p.His1435Gln Single submitter ⚠
  • p.His1435Tyr Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Leu918fs Single submitter Inborn genetic diseases
  • p.Phe1364fs Single submitter Inborn genetic diseases
  • p.Pro1014fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Pro1476Leu Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.Ser1434Pro Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.Ser641fs Single submitter Inborn genetic diseases
  • p.Ser84fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Thr758fs No assertion criteria neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Pathogenic/Likely pathogenic 10

  • p.1436LH[3] Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Ala152fs Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Gln858Ter Multiple submitters Inborn genetic diseases
  • p.His1431Gln Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.His1435Arg Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Leu1436_His1439del Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Pro1049Leu Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.Pro1424Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1245fs Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Tyr236fs Multiple submitters Inborn genetic diseases

Likely pathogenic 38

  • p.His1429Arg Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.His1433Pro Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.His1435Leu Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • c.1204-1G>A Single submitter
  • c.397-1G>A Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • c.726-2A>G Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • c.830+1G>C Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • c.830+1G>T Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Arg117fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Arg1310Gly Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Arg1315Ter Single submitter
  • p.Arg205Ter Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Arg21Ter Single submitter
  • p.Asn1342Ter Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Asn207fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Gln1031fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Gln908Ter Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Gln910Ter Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Glu1105fs Single submitter RERE-related disorder
  • p.Glu1165_Glu1168del Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Glu1173Ter Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Glu1399Lys Single submitter
  • p.Glu915fs Single submitter
  • p.Gly521Ter Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.His1464Arg Single submitter ⚠
  • p.His1542fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Leu1256Pro Single submitter ⚠
  • p.Leu1517Gln Single submitter ⚠
  • p.Lys25fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Pro1017fs Single submitter
  • p.Pro1262Arg Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.Pro1277Leu Single submitter ⚠
  • p.Pro220fs Single submitter
  • p.Ser976Phe Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart ⚠
  • p.Thr120fs Single submitter neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Tyr505fs Single submitter RERE-related disorder
  • p.Gln760Ter No assertion criteria autism spectrum disorder
  • p.Pro919fs No assertion criteria RERE-related disorder

Conflicting classifications of pathogenicity 60

Benign 51

Benign/Likely benign 32

  • c.1448-7C>T Multiple submitters
  • c.1540+10C>T Multiple submitters
  • c.3618+17C>T Multiple submitters
  • c.879+20C>T Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.1186KE[2] Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.1192RE[6] Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Ala1002Thr Multiple submitters
  • p.Ala1352Thr Multiple submitters
  • p.Ala467= Multiple submitters
  • p.Ala467Thr Multiple submitters Inborn genetic diseases
  • p.Ala616Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1172= Multiple submitters
  • p.Arg1196= Multiple submitters
  • p.Arg1312= Multiple submitters
  • p.Arg508= Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Asn425Ser Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Glu490= Multiple submitters
  • p.Gly1450= Multiple submitters
  • p.Gly1505= Multiple submitters
  • p.Ile1507Val Multiple submitters Inborn genetic diseases
  • p.Lys516= Multiple submitters
  • p.Phe1232= Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Pro1022Ala Multiple submitters
  • p.Pro1030Ser Multiple submitters Inborn genetic diseases
  • p.Pro1510Thr Multiple submitters neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  • p.Pro424= Multiple submitters
  • p.Pro442= Multiple submitters
  • p.Pro791Ser Multiple submitters Inborn genetic diseases
  • p.Pro866= Multiple submitters
  • p.Ser615= Multiple submitters
  • p.Thr473= Multiple submitters
  • p.Thr72= Multiple submitters

Likely benign 307

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

Uncertain significance 635

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