ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.733-1G>C

dbSNP: rs886041223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850582 SCV000992804 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-12-31 criteria provided, single submitter clinical testing
Invitae RCV001858474 SCV002246567 pathogenic not provided 2021-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with skipping of exon 7 but is expected to preserve the integrity of the reading frame (PMID: 9097956, 7550339). Disruption of this splice site has been observed in individual(s) with hypophosphatemia (PMID: 9097956, 19219621). ClinVar contains an entry for this variant (Variation ID: 689777). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 6 of the PHEX gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
Mendelics RCV000850582 SCV002518802 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2022-05-04 criteria provided, single submitter clinical testing

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