ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1229G>T (p.Arg410Leu)

dbSNP: rs367874223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942917 SCV002182819 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-06-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 441 of the TH protein (p.Arg441Leu). 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. ClinVar contains an entry for this variant (Variation ID: 1411237). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.Arg441 amino acid residue in TH. Other variant(s) that disrupt this residue have been observed in individuals with TH-related conditions (PMID: 23939262, 27619486), which suggests that this may be a clinically significant amino acid residue. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323950 SCV004029970 uncertain significance not specified 2023-07-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693945 SCV005191115 uncertain significance not provided criteria provided, single submitter not provided

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