Sugi Variant

Sugi Variant/LTBP4

LTBP4 — 1236 ClinVar variants

All ClinVar germline LTBP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 462 flagged for review →

41 Pathogenic · 4 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 36 Conflicting · 72 Benign · 24 Benign/Likely benign · 508 Likely benign · 531 Uncertain significance

Full LTBP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 462

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 12

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

Predictors lean, ClinVar uncertain 359

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 359

Predictors split 90

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

All LTBP4 variants

Pathogenic 41

Pathogenic/Likely pathogenic 4

  • c.1307-2A>G Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Arg1347fs Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Arg677Ter Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Leu85fs Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Likely pathogenic 20

Conflicting classifications of pathogenicity 36

  • c.2431+11T>C Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • c.2681-10C>G Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • c.3986-4C>T Single submitter
  • c.443-14C>T Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Arg1017Gln Single submitter ⚠
  • p.Arg1113His Single submitter ⚠
  • p.Arg1184Trp Single submitter ⚠
  • p.Arg347= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Arg628Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg91= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Asn913= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Asp452_Pro455del Single submitter
  • p.Cys41= Single submitter
  • p.Glu1044Gly Single submitter LTBP4-related disorder ⚠
  • p.Glu1160Lys Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ⚠
  • p.Glu386= Single submitter
  • p.Gly1471Arg Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ⚠
  • p.Gly310= Single submitter
  • p.Gly340= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Gly349Arg Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ⚠
  • p.Gly387= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Gly413Asp Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ⚠
  • p.Gly747Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly978= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Leu19_Gln22dup Single submitter
  • p.Pro1067Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro1345Arg Single submitter ⚠
  • p.Pro970Arg Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ⚠
  • p.Thr426Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr720= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Tyr213= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Val1187Met Single submitter ⚠
  • p.Val1204Met Single submitter ⚠
  • p.Val1293Met Single submitter
  • p.Val173Leu Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ⚠
  • p.Val812= Single submitter cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Benign 72

Benign/Likely benign 24

  • c.1157-17C>G Multiple submitters
  • c.1427-3del Multiple submitters
  • c.2299+20G>A Multiple submitters
  • c.2389+9A>G Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • c.3484+18G>A Multiple submitters
  • c.3832+8C>T Multiple submitters
  • c.3833-7C>T Multiple submitters
  • c.*20G>A Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Ala1467Val Multiple submitters
  • p.Arg1403His Multiple submitters
  • p.Asp1229= Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Asp685Asn Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Cys1065= Multiple submitters
  • p.Cys45= Multiple submitters
  • p.Gln36= Multiple submitters
  • p.Glu817= Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Gly286= Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Leu27= Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Thr1074Met Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Thr753Ala Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Tyr1013fs Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
  • p.Val1043= Multiple submitters
  • p.Val1087Ile Multiple submitters
  • p.Val127Ile Multiple submitters cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Likely benign 508

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

Uncertain significance 531

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