Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413761 | SCV000490719 | likely pathogenic | not provided | 2016-12-12 | criteria provided, single submitter | clinical testing | The c.2244_2245delCT pathogenic variant in the PHEX gene causes a frameshift starting with last residue of the protein, codon Tryptophan 749, and changes this amino acid to a Valine residue while adding an additional 42 residues before creating a Stop codon at position 44 of the new reading frame, denoted p.Trp749ValfsX44. This variant has been observed at GeneDx in other patients diagnosed with hypophosphatemic rickets. The c.2244_2245delCT 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, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |