ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) (rs886041364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000316029 SCV000329879 pathogenic not provided 2016-06-28 criteria provided, single submitter clinical testing The c.1779_1782dupTGAT variant in the PHEX gene has been reported previously as c.1783insTGAT in association with hypophosphatemic rickets (Francis et al., 1997). The duplication changes the Lysine at position 595 to a Stop codon. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000505494 SCV000599659 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-11-18 criteria provided, single submitter clinical testing

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