Submissions for variant NM_000360.4(TH):c.601C>T (p.Gln201Ter)

dbSNP: rs1057517423

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000411945	SCV000487259	pathogenic	Autosomal recessive DOPA responsive dystonia	2016-11-02	criteria provided, single submitter	clinical testing
Invitae	RCV000411945	SCV001409201	pathogenic	Autosomal recessive DOPA responsive dystonia	2023-12-26	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln232*) 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). This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with tyrosine hydroxylase deficiency (PMID: 20823027, 22264700). ClinVar contains an entry for this variant (Variation ID: 371630). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Center for Molecular Medicine, Children’s Hospital of Fudan University	RCV000411945	SCV002073937	pathogenic	Autosomal recessive DOPA responsive dystonia	2022-02-08	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000411945	SCV002085399	pathogenic	Autosomal recessive DOPA responsive dystonia	2020-04-04	no assertion criteria provided	clinical testing