ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.400G>T (p.Glu134Ter) (rs779681799)

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 RCV000671217 SCV000796170 uncertain significance BH4-deficient hyperphenylalaninemia A 2017-12-04 criteria provided, single submitter clinical testing
Invitae RCV000671217 SCV001575567 likely pathogenic BH4-deficient hyperphenylalaninemia A 2020-09-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PTS gene (p.Glu134*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 12 amino acids of the PTS protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTS-related conditions. ClinVar contains an entry for this variant (Variation ID: 555399). This variant disrupts the p.Asp136 amino acid residue in PTS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9222757, 11388593, 25418970). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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.