ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.208_212del (p.Val70fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219349 SCV001391284 pathogenic not provided 2019-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val70Serfs*7) 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 individuals affected with hypophosphataemic rickets or bone dysplasia (PMID: 9097956, 26377240). 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.
MNM Diagnostics RCV001271108 SCV001451952 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-08-25 criteria provided, single submitter clinical testing This is a frame-shift mutation resulting in truncated protein, whose LOF is a known mechanism of X-linked hypophosphatemic rickets (XLHR) (PVS1). This is a de novo variant in a male patient with the disease and no family history (maternity confirmed) (PS2). It is located within functional protein domain (PM1), and patient's phenotype is specific for the disease of monogenic etiology (PP4).

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