Total submissions: 2
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, |
RCV001819768 | SCV002064510 | pathogenic | not provided | 2017-09-13 | criteria provided, single submitter | clinical testing |