ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) (rs770573978)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438600 SCV000516634 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The R20X nonsense variant in the PHEX gene has been frequently reported in association withX-Linked Hypophosphatemic Rickets (Rowe et al., 1997; Francis et al., 1997; Cho et al., 2005). TheR20X variant was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. This pathogenic variant is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay.
Institute of Human Genetics, Klinikum rechts der Isar RCV000505445 SCV000599623 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-10-28 criteria provided, single submitter clinical testing
Invitae RCV000438600 SCV000963405 pathogenic not provided 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg20*) in the PHEX gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with X-linked hypophosphatemic rickets (PMID: 9097956, 9199930). ClinVar contains an entry for this variant (Variation ID: 379502). Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). For these reasons, this variant has been classified as Pathogenic.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000505445 SCV001482393 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-05-31 no assertion criteria provided research

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