ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.73C>G (p.Arg25Gly) (rs1167104933)

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
Invitae RCV000545224 SCV000636858 pathogenic BH4-deficient hyperphenylalaninemia A 2020-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 25 of the PTS protein (p.Arg25Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with biopterin deficient hyperphenylalanemia and to segregate with disease in a family (PMID: 23138986, 9450907). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000545224 SCV000789471 likely pathogenic BH4-deficient hyperphenylalaninemia A 2017-02-01 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.