ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)

dbSNP: rs193922458
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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 RCV000030356 SCV000053023 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 RCV001211408 SCV001382948 pathogenic not provided 2021-04-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PHEX-related conditions. ClinVar contains an entry for this variant (Variation ID: 36677). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp106*) in the PHEX gene. It is expected to result in an absent or disrupted protein product.

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