Sugi Variant

Sugi Variant/CTC1

CTC1 — 1622 ClinVar variants

All ClinVar germline CTC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 704 flagged for review →

80 Pathogenic · 18 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 67 Conflicting · 54 Benign · 17 Benign/Likely benign · 509 Likely benign · 844 Uncertain significance

Full CTC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 704

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 26

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

Predictors lean, ClinVar uncertain 429

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 429

Predictors split 246

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 246

All CTC1 variants

Pathogenic 80

Pathogenic/Likely pathogenic 18

  • c.1617+5G>T Multiple submitters dyskeratosis congenita
  • c.2758+1G>T Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Arg1195Ter Multiple submitters dyskeratosis congenita
  • p.Arg396Ter Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Arg818Ter Multiple submitters dyskeratosis congenita
  • p.Arg987Trp Multiple submitters dyskeratosis congenita ⚠
  • p.Gln585Ter Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Glu454fs Multiple submitters dyskeratosis congenita
  • p.Glu557fs Multiple submitters dyskeratosis congenita
  • p.His726fs Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.His84fs Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.His945fs Multiple submitters dyskeratosis congenita
  • p.Met1Lys Multiple submitters dyskeratosis congenita
  • p.Pro999_Glu1000insTer Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Pro999fs Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Ser357fs Multiple submitters dyskeratosis congenita
  • p.Trp50Ter Multiple submitters Inborn genetic diseases
  • p.Val259Met Multiple submitters dyskeratosis congenita ⚠

Likely pathogenic 33

  • c.1818+1G>A Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • c.2386-1G>A Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • c.3221+1G>A Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Arg840Trp Multiple submitters dyskeratosis congenita ⚠
  • p.Asp44fs Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • c.1077+1G>A Single submitter dyskeratosis congenita
  • c.1207-1G>C Single submitter dyskeratosis congenita
  • c.1617+1G>T Single submitter dyskeratosis congenita
  • c.2060+1G>T Single submitter dyskeratosis congenita
  • c.2385+1G>C Single submitter dyskeratosis congenita
  • c.2760dup Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • c.3012-1_3013delinsAG Single submitter
  • c.3157-2A>C Single submitter dyskeratosis congenita
  • c.3221+2T>C Single submitter dyskeratosis congenita
  • c.33+2T>G Single submitter dyskeratosis congenita
  • c.3387+1G>A Single submitter dyskeratosis congenita
  • c.3387+1G>C Single submitter dyskeratosis congenita
  • c.3388-1G>A Single submitter dyskeratosis congenita
  • c.34-2A>G Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • c.436-1G>A Single submitter dyskeratosis congenita
  • p.Arg1051fs Single submitter CTC1-related disorder
  • p.Arg905fs Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Arg987Gln Single submitter dyskeratosis congenita ⚠
  • p.Cys1198Ter Single submitter
  • p.Gln268fs Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Glu180Ter Single submitter dyskeratosis congenita
  • p.Glu374Ter Single submitter dyskeratosis congenita
  • p.Gly751fs Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Ile1168fs Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Leu355fs Single submitter
  • p.Lys738fs Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Ser762fs Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Val912fs Single submitter cerebroretinal microangiopathy with calcifications and cysts 1

Conflicting classifications of pathogenicity 67

  • c.1078-13G>A Single submitter dyskeratosis congenita
  • c.1207-4C>T Single submitter dyskeratosis congenita
  • c.1819-14T>G Single submitter dyskeratosis congenita
  • c.1946-6C>T Single submitter dyskeratosis congenita
  • c.2060+12G>A Single submitter dyskeratosis congenita
  • c.2385+2T>C Single submitter Inborn genetic diseases
  • c.2386-10A>G Single submitter dyskeratosis congenita
  • c.3222-4A>G Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • c.34-9T>G Single submitter dyskeratosis congenita
  • c.3515-10C>T Single submitter dyskeratosis congenita
  • c.648-9C>T Single submitter dyskeratosis congenita
  • p.Ala1027Thr Single submitter dyskeratosis congenita ⚠
  • p.Ala578= Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Ala6Val Single submitter dyskeratosis congenita ⚠
  • p.Ala760Thr Single submitter dyskeratosis congenita ⚠
  • p.Ala821Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala825Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala913Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala965= Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Arg1178Ter Single submitter dyskeratosis congenita
  • p.Arg1202Gln Single submitter dyskeratosis congenita ⚠
  • p.Arg1202Ter Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Arg162His Single submitter Inborn genetic diseases ⚠
  • p.Arg306His Single submitter Inborn genetic diseases ⚠
  • p.Arg436Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg445Cys Single submitter dyskeratosis congenita ⚠
  • p.Arg487Gly Single submitter dyskeratosis congenita ⚠
  • p.Arg522Trp Single submitter dyskeratosis congenita ⚠
  • p.Arg5Gly Single submitter cerebroretinal microangiopathy with calcifications and cysts 1 ⚠
  • p.Arg653Gln Single submitter cerebroretinal microangiopathy with calcifications and cysts 1 ⚠
  • p.Arg731Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg841His Single submitter dyskeratosis congenita ⚠
  • p.Arg975Gly Single submitter cerebroretinal microangiopathy with calcifications and cysts 1 ⚠
  • p.Cys928Phe Single submitter dyskeratosis congenita ⚠
  • p.Gly131Arg Single submitter cerebroretinal microangiopathy with calcifications and cysts 1 ⚠
  • p.Gly221= Single submitter dyskeratosis congenita
  • p.Gly278Val Single submitter dyskeratosis congenita ⚠
  • p.Gly364= Single submitter dyskeratosis congenita
  • p.Gly751= Single submitter dyskeratosis congenita
  • p.Gly782Ala Single submitter dyskeratosis congenita ⚠
  • p.Ile1155Val Single submitter dyskeratosis congenita ⚠
  • p.Ile1168= Single submitter dyskeratosis congenita
  • p.Leu514= Single submitter dyskeratosis congenita
  • p.Lys74Arg Single submitter Inborn genetic diseases ⚠
  • p.Met1Leu Single submitter dyskeratosis congenita
  • p.Met677Val Single submitter Inborn genetic diseases ⚠
  • p.Pro500= Single submitter dyskeratosis congenita
  • p.Pro574Ser Single submitter CTC1-related disorder ⚠
  • p.Pro576= Single submitter dyskeratosis congenita
  • p.Pro725Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro813= Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Pro943Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1166= Single submitter dyskeratosis congenita
  • p.Ser121= Single submitter dyskeratosis congenita
  • p.Ser499Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser583Asn Single submitter dyskeratosis congenita ⚠
  • p.Thr1064Ala Single submitter dyskeratosis congenita ⚠
  • p.Thr199= Single submitter dyskeratosis congenita
  • p.Thr826= Single submitter dyskeratosis congenita
  • p.Tyr205= Single submitter cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Tyr65= Single submitter dyskeratosis congenita
  • p.Tyr764Cys Single submitter dyskeratosis congenita ⚠
  • p.Val1117= Single submitter dyskeratosis congenita
  • p.Val1190Met Single submitter dyskeratosis congenita ⚠
  • p.Val288Met Single submitter dyskeratosis congenita ⚠
  • p.Val661Ile Single submitter cerebroretinal microangiopathy with calcifications and cysts 1 ⚠
  • p.Val8= Single submitter dyskeratosis congenita

Benign 54

Benign/Likely benign 17

  • c.197+15C>T Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • c.3221+13G>C Multiple submitters dyskeratosis congenita
  • c.*43C>T Multiple submitters dyskeratosis congenita
  • p.Arg1051= Multiple submitters dyskeratosis congenita
  • p.Arg436His Multiple submitters dyskeratosis congenita
  • p.Arg78His Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1
  • p.Asp342Gly Multiple submitters dyskeratosis congenita
  • p.Asp718Glu Multiple submitters dyskeratosis congenita
  • p.Cys1029= Multiple submitters dyskeratosis congenita
  • p.Gln461= Multiple submitters dyskeratosis congenita
  • p.Gly721Ala Multiple submitters dyskeratosis congenita
  • p.Leu63= Multiple submitters dyskeratosis congenita
  • p.Pro599Ser Multiple submitters dyskeratosis congenita ⚠
  • p.Ser83Thr Multiple submitters dyskeratosis congenita ⚠
  • p.Tyr467= Multiple submitters dyskeratosis congenita
  • p.Tyr991= Multiple submitters dyskeratosis congenita
  • p.Val42= Multiple submitters cerebroretinal microangiopathy with calcifications and cysts 1

Likely benign 509

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

Uncertain significance 844

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