TCOF1 P672S - GET-Evidence

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

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(TCOF1 Pro672Ser)

Short summary

The variant was not found to segregate with disease.

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


Insufficiently evaluated benign

(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.


Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000 Oct;16(4):315-22. Review. PubMed PMID: 11013442.

The investigators examined 25 coding exons and adjacent splice junctions through SSCP and
direct sequencing. They reported pathogenic in 26/28 families examined. No families had the P672S mutation and they report the mutation in 1% of controls.


Other external references

    Web search results (1 hit -- see all)
  • Polymorphic Mutations
    Wise et al., 1997#, Splendore et al., 2000*, Teber et al, 2004 ... P672S. c.2245 C>T. p.Pro749Ser. missense. Splendore et al., 2000* 0.01* 10. Exon 16. c.2429 C>T ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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