ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs)

dbSNP: rs1556138742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000505402 SCV000599639 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857230 SCV002221051 pathogenic not provided 2021-11-01 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: 438511). 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.Ala630Glufs*18) 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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