ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.884_885dup (p.Met296fs)

dbSNP: rs193922460
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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 RCV000030358 SCV000053025 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 RCV003678979 SCV004409283 pathogenic not provided 2022-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 36679). This variant has not been reported in the literature in individuals affected with PHEX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met296Profs*6) 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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