ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)

dbSNP: rs1556151137
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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000505391 SCV000599685 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-06-12 criteria provided, single submitter clinical testing
Mendelics RCV000505391 SCV002518830 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558429 SCV004299529 pathogenic not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg664*) in the PHEX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypophosphatemia (PMID: 9199930). This variant is also known as 1991insTGAC. ClinVar contains an entry for this variant (Variation ID: 438550). 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.