Sugi Variant

Sugi Variant/DSPP

DSPP — 738 ClinVar variants

All ClinVar germline DSPP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 391 flagged for review →

36 Pathogenic · 3 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 35 Conflicting · 100 Benign · 12 Benign/Likely benign · 163 Likely benign · 368 Uncertain significance

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

⚑ Evidence disagreements 391

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 2

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

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 98

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 277

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 277

All DSPP variants

Pathogenic 36

  • c.135+1G>A Multiple submitters DSPP-related disorder
  • p.Val18Phe Multiple submitters Monogenic hearing loss ⚠
  • c.52-1G>A Single submitter
  • p.Ala15Val Single submitter dentinogenesis imperfecta type 2 ⚠
  • p.Asn1002fs Single submitter dentinogenesis imperfecta type 2
  • p.Asn646fs Single submitter Dentin dysplasia, Type II; DTDP2
  • p.Asn828fs Single submitter dentinogenesis imperfecta type 2
  • p.Asp1185fs Single submitter dentinogenesis imperfecta type 2
  • p.Asp884fs Single submitter dentinogenesis imperfecta type 2
  • p.Asp943fs Single submitter dentinogenesis imperfecta type 2
  • p.Glu630fs Single submitter dentinogenesis imperfecta type 2
  • p.Pro17Leu Single submitter
  • p.Pro17Ser Single submitter ⚠
  • p.Ser1007fs Single submitter
  • p.Ser1016fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser1060fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser1160fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser1180fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser1226fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser1228fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser563fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser605fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser624fs Single submitter
  • p.Ser701fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser773fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser809fs Single submitter dentinogenesis imperfecta type 2
  • p.Val18Gly Single submitter dentinogenesis imperfecta type 2 ⚠
  • c.135+1G>C No assertion criteria dentinogenesis imperfecta
  • c.52-2A>G No assertion criteria
  • c.52-2del No assertion criteria dentinogenesis imperfecta
  • p.Asp1080fs No assertion criteria Pulp calcification
  • p.Asp1146fs No assertion criteria dentinogenesis imperfecta type 2
  • p.Gln45= No assertion criteria dentinogenesis imperfecta
  • p.Gln45Ter No assertion criteria dentinogenesis imperfecta type 2
  • p.Pro17Thr No assertion criteria Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 ⚠
  • p.Ser680fs No assertion criteria Pulp calcification

Pathogenic/Likely pathogenic 3

  • p.Asp625fs Multiple submitters dentinogenesis imperfecta type 2
  • p.Ser640fs Multiple submitters Dentin dysplasia, Type II; DTDP2
  • p.Ser842fs Multiple submitters Pulp calcification

Likely pathogenic 21

  • c.52-1G>C Single submitter
  • p.Arg488Ter Single submitter Pulp calcification
  • p.Asn1017fs Single submitter dentinogenesis imperfecta type 2
  • p.Asn1179fs Single submitter dentinogenesis imperfecta type 2
  • p.Asn1248fs Single submitter dentinogenesis imperfecta type 2
  • p.Asn781fs Single submitter dentinogenesis imperfecta type 2
  • p.Asp573fs Single submitter DSPP-related disorder
  • p.Asp896fs Single submitter dentinogenesis imperfecta type 2
  • p.Gln428fs Single submitter
  • p.Glu511Ter Single submitter dentinogenesis imperfecta type 2
  • p.Ser1183fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser1189fs Single submitter dentinogenesis imperfecta type 3
  • p.Ser1204fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser602fs Single submitter dentinogenesis imperfecta type 2
  • p.Ser938fs Single submitter Autosomal dominant DSPP-related disorders
  • p.Val18Asp Single submitter dentinogenesis imperfecta type 2
  • p.Asp1170fs No assertion criteria Pulp calcification
  • p.Glu1083fs No assertion criteria deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
  • p.Ser1045fs No assertion criteria Pulp calcification
  • p.Ser945fs No assertion criteria dentinogenesis imperfecta type 2
  • p.Ser951fs No assertion criteria dentinogenesis imperfecta type 2

Conflicting classifications of pathogenicity 35

Benign 100

Benign/Likely benign 12

Likely benign 163

Uncertain significance 368

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