ClinVar Miner

Submissions for variant NM_000360.4(TH):c.577-22_577-5del

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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 RCV002843671 SCV003220601 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-07-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TH-related conditions. This sequence change falls in intron 5 of the TH gene. It does not directly change the encoded amino acid sequence of the TH protein. This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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