ClinVar Miner

Submissions for variant NM_000360.4(TH):c.692C>G (p.Thr231Ser) (rs1590168246)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853251 SCV000996072 likely pathogenic Dystonia 2017-08-31 criteria provided, single submitter clinical testing This variant has not been previously reported in the literature to our knowledge, and is presumed rare due to its absence in public databases of healthy adults. This variant is predicted by in silico methods to have a deleterious effect on protein function and the 262-Thr residue is highly conserved among vertebrates. Other nearby pathogenic variants in exon 7 have been described and functionally assessed (PMID: 24753243). Missense variants in the TH gene are tolerated based on data in ExAC, but homozygotes are not. This variant was found in trans with a pathogenic variant. Based on the available evidence, this variant is classified as likely pathogenic.

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.