ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.317C>T (p.Thr106Met) (rs200712908)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667396 SCV000791833 likely pathogenic BH4-deficient hyperphenylalaninemia A 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000667396 SCV001226473 pathogenic BH4-deficient hyperphenylalaninemia A 2020-10-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 106 of the PTS protein (p.Thr106Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200712908, ExAC 0.03%). This variant has been observed in combination with another PTS variant in several individuals and families affected with hyperphenylalaninemia (PMID: 11694255, 23138986, 27246466). ClinVar contains an entry for this variant (Variation ID: 552175). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091032 SCV001246864 pathogenic not provided 2017-08-01 criteria provided, single submitter 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.