ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1354C>T (p.Gln452Ter)

dbSNP: rs2133686936
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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 RCV001889566 SCV002163409 pathogenic Autosomal recessive DOPA responsive dystonia 2022-11-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1390521). This sequence change creates a premature translational stop signal (p.Gln483*) in the TH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the TH protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TH-related conditions. This variant disrupts a region of the TH protein in which other variant(s) (p.Val499Met) have been determined to be pathogenic (PMID: 29724574, 33072517). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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