ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.680_681TC[1] (p.Ser228fs) (rs1064793956)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486799 SCV000567450 pathogenic not provided 2015-08-12 criteria provided, single submitter clinical testing The c.682_683delTC deletion in the PHEX gene has been reported previously in association with X-Linked hypophosphatemic rickets (Francis et al., 1995). The deletion causes a frameshift starting with codon Serine 228, changes this amino acid to a Proline residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Ser228ProfsX9. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret the c.682_683delTC variant as pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000505406 SCV000599651 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-10-28 criteria provided, single submitter clinical testing

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