ClinVar Miner

Submissions for variant NC_000011.10:g.(?_2166470)_(2168675_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032363 SCV001195670 likely pathogenic Dystonic disorder 2019-02-22 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 4-10 of the TH gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with TH-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the p.Arg233His amino acid residue in TH. Other variant(s) that disrupt this residue have been observed in individuals with TH-related conditions (PMID: 9703425, 10407773, 20430833, 20823027), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001378026 SCV001575506 likely pathogenic Autosomal recessive DOPA responsive dystonia 2019-02-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg233His amino acid residue in TH. Other variant(s) that disrupt this residue have been observed in individuals with TH-related conditions (PMID: 9703425, 10407773, 20430833, 20823027), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with TH-related conditions. This variant is an in-frame deletion of the genomic region encompassing exons 4-10 of the TH gene. It preserves the integrity of the reading frame.

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