ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)

dbSNP: rs193922455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030353 SCV000053020 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381407 SCV001579788 pathogenic not provided 2021-10-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 36674). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with hypophosphatemia (PMID: 30682568). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp530*) in the PHEX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621).

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