ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.71del (p.Lys24fs)

dbSNP: rs1802756440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049133 SCV001213167 pathogenic Torsion dystonia 6 2019-06-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in THAP1 are known to be pathogenic (PMID: 19345147). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with THAP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys24Serfs*49) in the THAP1 gene. It is expected to result in an absent or disrupted protein product.

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