ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1586+3_1586+6del

dbSNP: rs886042234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000316107 SCV000332746 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000505446 SCV000599666 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-11-06 criteria provided, single submitter clinical testing
Mendelics RCV000505446 SCV001141537 likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000316107 SCV001387148 pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing This variant has been observed in individuals with hypophosphatemia (PMID: 9106524, 18625346; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the PHEX gene. It does not directly change the encoded amino acid sequence of the PHEX protein. It affects a nucleotide within the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 281773). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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