ClinVar Miner

Submissions for variant NM_000360.4(TH):c.364C>T (p.Arg122Ter) (rs771610752)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521520 SCV000616894 pathogenic not provided 2018-04-13 criteria provided, single submitter clinical testing The R153X variant in the TH gene has been reported previously in association with autosomal recessive tyrosine hydroxylase deficiency (Mak et al., 2010; Chi et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R153X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R153X as a pathogenic variant.
Invitae RCV000807379 SCV000947427 pathogenic Dystonia 2018-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg153*) in the TH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs771610752, ExAC 0.04%). This variant has been observed in individuals affected with tyrosine hydroxylase deficiency (PMID: 20056467, 22264700, 28087438). ClinVar contains an entry for this variant (Variation ID: 449110). Loss-of-function variants in TH are known to be pathogenic (PMID: 11160968, 24753243). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000671827 SCV000796850 pathogenic Segawa syndrome, autosomal recessive 2018-01-02 no assertion criteria provided clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000671827 SCV000853144 likely pathogenic Segawa syndrome, autosomal recessive 2017-06-07 no assertion criteria provided curation

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