ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1768+5G>A (rs1057524608)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992531 SCV001144925 uncertain significance not provided 2018-11-23 criteria provided, single submitter clinical testing
Invitae RCV000992531 SCV001388337 pathogenic not provided 2020-08-04 criteria provided, single submitter clinical testing This sequence change falls in intron 17 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 individual(s) with hypophosphatemic rickets (PMID: 18162710, 30682568, 14564077, Invitae). 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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