Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.
Please help improve GET-Evidence by evaluating evidence for this variant!
The variant was not found to segregate with disease.
Insufficiently evaluated benign
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
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.