ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)

dbSNP: rs193922457
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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 RCV000030355 SCV000053022 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 RCV001220680 SCV001392686 pathogenic not provided 2019-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly667*) 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). 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 not been reported in the literature in individuals with PHEX-related conditions. ClinVar contains an entry for this variant (Variation ID: 36676).

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