Sugi Variant

Sugi Variant/TCAP

TCAP — 358 ClinVar variants

All ClinVar germline TCAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →

15 Pathogenic · 6 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 26 Conflicting · 4 Benign · 5 Benign/Likely benign · 85 Likely benign · 207 Uncertain significance

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

⚑ Evidence disagreements 164

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 11

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

Predictors lean, ClinVar uncertain 109

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

Predictors split 43

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

All TCAP variants

Pathogenic 15

  • c.110_110+1del Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2G
  • p.Glu35Ter Multiple submitters hypertrophic cardiomyopathy 25
  • c.110+2T>C Single submitter hypertrophic cardiomyopathy 25
  • c.110+5G>A Single submitter familial hypertrophic cardiomyopathy
  • p.Arg18fs Single submitter familial hypertrophic cardiomyopathy
  • p.Cys15_Glu16delinsTer Single submitter hypertrophic cardiomyopathy 25
  • p.Gln46fs Single submitter hypertrophic cardiomyopathy 25
  • p.Gln56Ter Single submitter familial hypertrophic cardiomyopathy
  • p.Glu12fs Single submitter familial hypertrophic cardiomyopathy
  • p.Glu9Ter Single submitter Cardiovascular phenotype
  • p.Gly72fs Single submitter Cardiovascular phenotype
  • p.His52fs Single submitter familial hypertrophic cardiomyopathy
  • p.Tyr51fs Single submitter hypertrophic cardiomyopathy 25
  • p.Tyr51Ter Single submitter hypertrophic cardiomyopathy 25
  • p.Thr137Ile No assertion criteria hypertrophic cardiomyopathy 25 ⚠

Pathogenic/Likely pathogenic 6

  • p.Arg17delinsLeuTer Multiple submitters hypertrophic cardiomyopathy 25
  • p.Cys57Ter Multiple submitters TCAP-related disorder
  • p.Gln53Ter Multiple submitters Cardiovascular phenotype
  • p.Ser31fs Multiple submitters Abnormality of the musculature
  • p.Trp22Ter Multiple submitters hypertrophic cardiomyopathy 25
  • p.Trp25Ter Multiple submitters TCAP-related disorder

Likely pathogenic 10

  • c.110+5G>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2G
  • p.Glu5fs Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2G
  • c.110_110+1dup Single submitter Cardiovascular phenotype
  • c.110+1_110+5del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2G
  • c.110+1G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2G
  • p.Gln56fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2G
  • p.Met1Leu Single submitter familial hypertrophic cardiomyopathy
  • p.Met1Val Single submitter familial hypertrophic cardiomyopathy
  • p.Glu120fs No assertion criteria hypertrophic cardiomyopathy 25
  • p.Ser11Ter No assertion criteria autosomal recessive limb-girdle muscular dystrophy type 2G

Conflicting classifications of pathogenicity 26

  • c.110+5G>C Single submitter hypertrophic cardiomyopathy 25
  • c.111-13C>T Single submitter hypertrophic cardiomyopathy 25
  • c.*395C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2G
  • c.*54G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2G
  • c.*76G>T Single submitter hypertrophic cardiomyopathy 25
  • p.Ala101Thr Single submitter familial hypertrophic cardiomyopathy ⚠
  • p.Ala118Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala20= Single submitter hypertrophic cardiomyopathy 25
  • p.Arg153His Single submitter hypertrophic cardiomyopathy 25 ⚠
  • p.Arg158Cys Single submitter TCAP-related disorder ⚠
  • p.Arg158Ser Single submitter TCAP-related disorder ⚠
  • p.Arg87Trp Single submitter familial hypertrophic cardiomyopathy ⚠
  • p.Asp129Glu Single submitter Cardiovascular phenotype ⚠
  • p.Asp44= Single submitter hypertrophic cardiomyopathy 25
  • p.Cys38Phe Single submitter Cardiovascular phenotype ⚠
  • p.Cys57Tyr Single submitter hypertrophic cardiomyopathy 25 ⚠
  • p.Gln112Ter Single submitter Cardiovascular phenotype
  • p.Gln114Arg Single submitter hypertrophic cardiomyopathy 25 ⚠
  • p.Glu105Gln Single submitter Cardiovascular phenotype ⚠
  • p.Glu105Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu13del Single submitter Cardiovascular phenotype
  • p.Phe94= Single submitter hypertrophic cardiomyopathy 25
  • p.Pro141Ala Single submitter Cardiovascular phenotype ⚠
  • p.Pro149= Single submitter Cardiovascular phenotype
  • p.Pro90= Single submitter Cardiovascular phenotype
  • p.Ser11Leu Single submitter Cardiovascular phenotype ⚠

Benign 4

Benign/Likely benign 5

  • c.111-15dup Multiple submitters hypertrophic cardiomyopathy 25
  • c.111-16C>G Multiple submitters hypertrophic cardiomyopathy 25
  • c.*377G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2G
  • p.Arg106Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser64Leu Multiple submitters hypertrophic cardiomyopathy

Likely benign 85

  • c.110+16C>G Multiple submitters familial hypertrophic cardiomyopathy
  • c.111-15C>G Multiple submitters hypertrophic cardiomyopathy 25
  • c.111-17C>T Multiple submitters hypertrophic cardiomyopathy 25
  • c.-13A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2G
  • p.Ala118= Multiple submitters Cardiovascular phenotype
  • p.Ala134= Multiple submitters Cardiovascular phenotype
  • p.Arg18= Multiple submitters Cardiovascular phenotype
  • p.Arg70= Multiple submitters Cardiovascular phenotype
  • p.Arg87= Multiple submitters Cardiovascular phenotype
  • p.Cys8= Multiple submitters familial hypertrophic cardiomyopathy
  • p.Gln62= Multiple submitters Cardiovascular phenotype
  • p.Glu36= Multiple submitters familial hypertrophic cardiomyopathy
  • p.Glu43= Multiple submitters familial hypertrophic cardiomyopathy
  • p.Glu80= Multiple submitters Cardiovascular phenotype
  • p.Gly100= Multiple submitters Cardiovascular phenotype
  • p.Gly75= Multiple submitters Cardiovascular phenotype
  • p.Ile93= Multiple submitters hypertrophic cardiomyopathy 25
  • p.Leu116= Multiple submitters familial hypertrophic cardiomyopathy
  • p.Leu156= Multiple submitters Cardiovascular phenotype
  • p.Leu28= Multiple submitters Cardiovascular phenotype
  • p.Leu74= Multiple submitters familial hypertrophic cardiomyopathy
  • p.Leu89= Multiple submitters hypertrophic cardiomyopathy 25
  • p.Pro141= Multiple submitters familial hypertrophic cardiomyopathy
  • p.Pro92= Multiple submitters hypertrophic cardiomyopathy 25
  • p.Ser161= Multiple submitters hypertrophic cardiomyopathy 25
  • p.Ser39= Multiple submitters familial hypertrophic cardiomyopathy
  • p.Ser64= Multiple submitters Cardiovascular phenotype
  • p.Thr29= Multiple submitters Cardiovascular phenotype
  • p.Val88= Multiple submitters Cardiovascular phenotype
  • c.110+13C>A Single submitter familial hypertrophic cardiomyopathy
  • c.110+15G>T Single submitter familial hypertrophic cardiomyopathy
  • c.110+18A>G Single submitter familial hypertrophic cardiomyopathy
  • c.110+7G>A Single submitter
  • c.110+8T>G Single submitter hypertrophic cardiomyopathy 25
  • c.111-11C>T Single submitter
  • c.111-14T>A Single submitter hypertrophic cardiomyopathy 25
  • c.111-15C>T Single submitter hypertrophic cardiomyopathy 25
  • c.111-16C>T Single submitter hypertrophic cardiomyopathy 25
  • c.111-19G>A Single submitter familial hypertrophic cardiomyopathy
  • c.-18A>G Single submitter
  • c.*4G>A Single submitter
  • p.Ala101= Single submitter hypertrophic cardiomyopathy 25
  • p.Ala97= Single submitter hypertrophic cardiomyopathy 25
  • p.Arg106= Single submitter Cardiovascular phenotype
  • p.Arg130= Single submitter hypertrophic cardiomyopathy 25
  • p.Arg17= Single submitter Cardiovascular phenotype
  • p.Arg33= Single submitter familial hypertrophic cardiomyopathy
  • p.Arg63= Single submitter Cardiovascular phenotype
  • p.Asp108Glu Single submitter Cardiovascular phenotype
  • p.Asp129= Single submitter familial hypertrophic cardiomyopathy
  • p.Cys127= Single submitter hypertrophic cardiomyopathy 25
  • p.Gln56= Single submitter hypertrophic cardiomyopathy 25
  • p.Gln79= Single submitter Cardiovascular phenotype
  • p.Glu12= Single submitter hypertrophic cardiomyopathy 25
  • p.Glu132= Single submitter Cardiovascular phenotype
  • p.Glu135= Single submitter Cardiovascular phenotype
  • p.Glu35= Single submitter familial hypertrophic cardiomyopathy
  • p.Gly125= Single submitter Cardiovascular phenotype
  • p.Gly55= Single submitter hypertrophic cardiomyopathy 25
  • p.Gly72= Single submitter Cardiovascular phenotype
  • p.Leu113= Single submitter Cardiovascular phenotype
  • p.Leu117= Single submitter
  • p.Leu140= Single submitter hypertrophic cardiomyopathy 25
  • p.Leu60= Single submitter hypertrophic cardiomyopathy 25
  • p.Leu67= Single submitter familial hypertrophic cardiomyopathy
  • p.Leu83= Single submitter Cardiovascular phenotype
  • p.Leu91= Single submitter hypertrophic cardiomyopathy 25
  • p.Lys26= Single submitter hypertrophic cardiomyopathy 25
  • p.Lys98= Single submitter Cardiovascular phenotype
  • p.Pro110= Single submitter hypertrophic cardiomyopathy 25
  • p.Pro142= Single submitter hypertrophic cardiomyopathy 25
  • p.Pro145= Single submitter familial hypertrophic cardiomyopathy
  • p.Pro34= Single submitter hypertrophic cardiomyopathy 25
  • p.Pro65= Single submitter Cardiovascular phenotype
  • p.Pro84= Single submitter Cardiovascular phenotype
  • p.Pro96= Single submitter Cardiovascular phenotype
  • p.Ser11= Single submitter familial hypertrophic cardiomyopathy
  • p.Ser147= Single submitter hypertrophic cardiomyopathy 25
  • p.Ser157= Single submitter Cardiovascular phenotype
  • p.Ser31= Single submitter familial hypertrophic cardiomyopathy
  • p.Ser7= Single submitter hypertrophic cardiomyopathy 25
  • p.Thr137= Single submitter Cardiovascular phenotype
  • p.Thr32= Single submitter hypertrophic cardiomyopathy 25
  • p.Tyr81= Single submitter familial hypertrophic cardiomyopathy
  • p.Val143= Single submitter hypertrophic cardiomyopathy 25

Uncertain significance 207