Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000505417 | SCV000599711 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2015-04-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857231 | SCV002231590 | pathogenic | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with hypophosphatemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 438575). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr657*) in the PHEX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). |