ClinVar Miner

Submissions for variant NM_000360.4(TH):c.739_743dup (p.Cys248fs)

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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 RCV003032358 SCV003336914 pathogenic Autosomal recessive DOPA responsive dystonia 2022-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys279Trpfs*34) in the TH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TH are known to be pathogenic (PMID: 22264700, 24753243). 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. For these reasons, this variant has been classified as Pathogenic.

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