Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000316107 | SCV000332746 | uncertain significance | not provided | 2015-07-28 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
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. |