Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519154 | SCV000618778 | pathogenic | not provided | 2017-07-06 | criteria provided, single submitter | clinical testing | The Q1468X variant in the PHIP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1468X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q1468X as a pathogenic variant. |
Institute of Medical Genetics and Applied Genomics, |
RCV002464241 | SCV002759320 | pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2022-12-07 | criteria provided, single submitter | clinical testing |