Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000505462 | SCV000599678 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2013-11-06 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000505462 | SCV001141517 | likely pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001051990 | SCV001216175 | pathogenic | not provided | 2023-02-27 | criteria provided, single submitter | clinical testing | This sequence change affects codon 197 of the PHEX mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PHEX protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hypophosphatemic rickets (PMID: 21902834, 29393334, 30682568). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 438544). Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 29393334). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000505462 | SCV002018776 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2022-03-21 | criteria provided, single submitter | clinical testing |