ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1482+5G>C (rs1269067103)

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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 RCV000505489 SCV000599627 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-10-31 criteria provided, single submitter clinical testing
Invitae RCV001044977 SCV001208803 pathogenic not provided 2020-02-29 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the PHEX gene. It does not directly change the encoded amino acid sequence of the PHEX protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with hypophosphatemic rickets (PMID: 10737991, 29460029, Invitae). ClinVar contains an entry for this variant (Variation ID: 438500). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 31102713). For these reasons, this variant has been classified as Pathogenic.

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