ClinVar Miner

Submissions for variant NC_000011.9:g.(?_2187460)_(2191953_?)del

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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 RCV001951498 SCV002241449 pathogenic Autosomal recessive DOPA responsive dystonia 2023-05-08 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Arg337 amino acid residue in TH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11246459). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant results in the deletion of exons 3-10 and part of exon 2 (c.150_1141-172del) of the TH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TH are known to be pathogenic (PMID: 22264700, 24753243).

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