ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter)

dbSNP: rs2133690417
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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 RCV001946812 SCV002243097 pathogenic Autosomal recessive DOPA responsive dystonia 2023-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1456177). This variant has not been reported in the literature in individuals affected with TH-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Glu406*) in the TH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TH are known to be pathogenic (PMID: 22264700, 24753243).
Fulgent Genetics, Fulgent Genetics RCV001946812 SCV005676247 likely pathogenic Autosomal recessive DOPA responsive dystonia 2024-03-09 criteria provided, single submitter clinical testing

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