Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484481 | SCV000574013 | likely pathogenic | not provided | 2017-03-15 | criteria provided, single submitter | clinical testing | The R255X 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 R255X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R255X as a likely pathogenic variant. |
DASA | RCV002298617 | SCV002588758 | pathogenic | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.763C>T;p.(Arg255*) variant creates a premature translational stop signal in the PHIP gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (ClinVar ID: 424224) - PS4_supporting. This variant is not present in population databases (rs1064796868, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic. |