ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1104G>A (p.Trp368Ter)

dbSNP: rs1930963615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220284 SCV001392264 pathogenic not provided 2021-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). This variant has been observed in an individual affected with X-linked hypophosphatemia (PMID: 14564077). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp368*) in the PHEX gene. It is expected to result in an absent or disrupted protein product.
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University RCV004761994 SCV004809198 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets no assertion criteria provided research

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