ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) (rs886041227)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000351204 SCV000329465 pathogenic not provided 2018-09-06 criteria provided, single submitter clinical testing The R747X variant in the PHEX gene has been reported previously in association with X-linked hypophosphatemic rickets (Francis et al., 1997; Filisetti et al., 1999; Holm et al., 2001; Capelli et al., 2015). This variant is predicted to cause loss of normal protein function through protein truncation. The R747X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R747X as a pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000505449 SCV000599629 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-10-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000351204 SCV000843046 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000505449 SCV000893828 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000351204 SCV001374163 pathogenic not provided 2019-11-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PHEX gene (p.Arg747*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acids of the PHEX protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with X-linked dominant hypophosphatemic rickets and to segregate with disease in a family (PMID: 9199930, 9768674). ClinVar contains an entry for this variant (Variation ID: 279873). For these reasons, this variant has been classified as 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.