ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.408dup (p.Thr137fs) (rs1554441993)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653734 SCV000775624 pathogenic Craniosynostosis 1; Saethre-Chotzen syndrome 2019-08-09 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TWIST1 gene (p.Thr137Hisfs*101). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the TWIST1 protein and extend the protein by an additional 35 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Saethre-Chotzen syndrome (PMID: 24127277). This variant results in an extension of the TWIST1 protein. Other variant(s) that result in a similarly extended protein product (p.Gln147Serfs*91) have been determined to be pathogenic (PMID: 24127277). This suggests that these extensions are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.