ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.955_957AAG[1] (p.Lys320del) (rs1556025968)

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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, Klinikum rechts der Isar RCV000505409 SCV000599611 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-10-28 criteria provided, single submitter clinical testing
Invitae RCV001307375 SCV001496785 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing This variant, c.958_960del, results in the deletion of 1 amino acid(s) of the PHEX protein (p.Lys320del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hypophosphatemia (PMID: 22695891, 26377240, Invitae). ClinVar contains an entry for this variant (Variation ID: 438490). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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