ClinVar Miner

Submissions for variant NM_000360.4(TH):c.714_715del (p.Leu239fs)

dbSNP: rs1564918287
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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 RCV000721988 SCV001586847 pathogenic Autosomal recessive DOPA responsive dystonia 2020-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TH are known to be pathogenic (PMID: 22264700, 24753243). This variant has not been reported in the literature in individuals with TH-related conditions. ClinVar contains an entry for this variant (Variation ID: 590824). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu270Glufs*86) in the TH gene. It is expected to result in an absent or disrupted protein product.
SingHealth Duke-NUS Institute of Precision Medicine RCV000721988 SCV000853143 likely pathogenic Autosomal recessive DOPA responsive dystonia 2017-06-07 no assertion criteria provided curation

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