ClinVar Miner

Submissions for variant NM_018105.2(THAP1):c.505C>T (p.Arg169Ter) (rs1131691345)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493115 SCV000581919 likely pathogenic not provided 2015-08-17 criteria provided, single submitter clinical testing The R169X variant in the THAP1 gene has not been reported previously as a disease-causing variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The R169X mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R169X variant is a strong candidate for a disease-causing variant however, the possibility it may be a rare benign variant cannot be excluded
Invitae RCV000688381 SCV000815990 uncertain significance Dystonia 6, torsion 2018-06-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the THAP1 gene (p.Arg169*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 45 amino acids of the THAP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with THAP1-related disease. ClinVar contains an entry for this variant (Variation ID: 429366). Other truncations (p.Arg172Lysfs*7 and p.Asp191Thrfs*9) that lie downstream of this variant have been reported in individuals affected with dystonia (PMID: 21520283, 21847143). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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