ClinVar Miner

Submissions for variant NM_000360.4(TH):c.749A>T (p.Glu250Val)

gnomAD frequency: 0.00001  dbSNP: rs878855309
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666892 SCV000791261 uncertain significance Autosomal recessive DOPA responsive dystonia 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666892 SCV001506562 uncertain significance Autosomal recessive DOPA responsive dystonia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 281 of the TH protein (p.Glu281Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with dystonia (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.