ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.77C>T (p.Pro26Leu)

dbSNP: rs1802674870
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050327 SCV001214426 likely pathogenic Torsion dystonia 6 2019-07-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Pro26 amino acid residue in THAP1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20211909, 21782490, 21839475, 22844099). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to affect THAP1 protein function (PMID: 21847143). This variant has been observed in individuals affected with dystonia (PMID: 21847143, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 26 of the THAP1 protein (p.Pro26Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Genetic Services Laboratory, University of Chicago RCV001819768 SCV002064510 pathogenic not provided 2017-09-13 criteria provided, single submitter clinical testing

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.