ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1378G>T (p.Asp460Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447870 SCV004175787 uncertain significance Autosomal recessive DOPA responsive dystonia 2023-02-14 criteria provided, single submitter clinical testing The missense c.1378G>T(p.Asp460Tyr) variant in TH gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp460Tyr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Asp460Tyr in TH is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Asp at position 460 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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