Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000316029 | SCV000329879 | pathogenic | not provided | 2016-06-28 | criteria provided, single submitter | clinical testing | The c.1779_1782dupTGAT variant in the PHEX gene has been reported previously as c.1783insTGAT in association with hypophosphatemic rickets (Francis et al., 1997). The duplication changes the Lysine at position 595 to a Stop codon. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic. |
Institute Of Human Genetics Munich, |
RCV000505494 | SCV000599659 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2013-11-18 | criteria provided, single submitter | clinical testing |