COMP D473G - GET-Evidence

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

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(COMP Asp473Gly)

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 COMP gene
    Multiple Epiphyseal Dysplasia, Dominant
    COMP-Related Multiple Epiphyseal Dysplasia
    Web search results (3 hits -- see all)
  • OMIM: 600310
    Overexpression of mutant COMP led to a dose-dependent decrease in cellular viability. ... in the COMP gene, resulting in an asp473-to-gly (D473G) amino acid ...
  • Defects in the genes coding for cartilage extracellular ...
    Instead, an R718W mutation in COMP was identified in both families. ... patients with collagen IX mutations and patients with COMP mutations points to a ...
  • Die Auswirkungen von Chondrodysplasie-assoziierten Mutationen ...
    COMP in which Asp361 was substituted by Tyr (D361Y) were both secreted into the ... exprimierte rekombinant Wildtyp-COMP, das strukturell und funktionell ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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