Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
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 | 2019-03-29 | 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with hypophosphatemic rickets and to segregate with disease in a second affected family (PMID: 21902834, 29393334). ClinVar contains an entry for this variant (Variation ID: 438544). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29393334). For these reasons, this variant has been classified as Pathogenic. |