TGFBR1 T200I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(TGFBR1 Thr200Ile)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the TGFBR1 gene
    Thoracic Aortic Aneurysms and Aortic Dissections
    Furlong Syndrome
    Loeys-Dietz Syndrome
    TGFBR1-Related Loeys-Dietz Syndrome
  • Score: 0.998 (probably damaging)
    Web search results (5 hits -- see all)
  • OMIM: 190181
    Two major TGFBR1 haplotypes are predominant among ASE cases, which ... the TGFBR1 gene that resulted in a thr200-to-ile (T200I) substitution at the junction of ...
  • Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
    We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys–Dietz ... Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and wide ...
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
  • Marfan syndroom
    TGFBR1 and 2. Vergeet de UVULA niet ! Differentiaal diagnose Marfan ... TGFBR1. of. 2. mutaties. Loeys-Dietz syndroom versus Shprintzen-Goldberg syndroom ...
  • Defects of cell surface proteins
    D524N. A329T. R537C. R537G. C520Y. L529F. R460H. Y448H. T200I. 1. 2. 3. 4. 5. 6 ... Loeys-Dietz Syndrome (TGFBR1/2) Vascular EDS (COL3A1, TGFBR1/2) Arterial Tortuosity ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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