ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)

dbSNP: rs1602307078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990522 SCV001141529 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001232657 SCV001405223 pathogenic not provided 2023-06-09 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: 803753). This premature translational stop signal has been observed in individuals with hypophosphatemia (PMID: 19219621, 30920082). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp403*) 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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