ClinVar Miner

Submissions for variant NM_000360.4(TH):c.644+1G>A

gnomAD frequency: 0.00002  dbSNP: rs1266265578
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673119 SCV000798287 likely pathogenic Autosomal recessive DOPA responsive dystonia 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV000673119 SCV001232806 likely pathogenic Autosomal recessive DOPA responsive dystonia 2023-12-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the TH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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 0.007%). This variant has not been reported in the literature in individuals affected with TH-related conditions. ClinVar contains an entry for this variant (Variation ID: 557031). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000673119 SCV004203857 likely pathogenic Autosomal recessive DOPA responsive dystonia 2023-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000673119 SCV002085366 likely pathogenic Autosomal recessive DOPA responsive dystonia 2020-10-10 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.