ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1035_1045del (p.Gln346fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792821 SCV000932142 pathogenic Dystonia 2018-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln377Glyfs*12) in the TH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TH-related disease. Loss-of-function variants in TH are known to be pathogenic (PMID: 11160968, 24753243). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001004555 SCV001163636 likely pathogenic Segawa syndrome, autosomal recessive criteria provided, single submitter clinical testing

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