Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479354 | SCV000567677 | pathogenic | not provided | 2015-09-05 | criteria provided, single submitter | clinical testing | The Y26X nonsense variant in the IGF2 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. Y26Xwas not observed in approximately 6500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. We interpret Y26X as a pathogenic variant. |
Centre de Recherche Saint Antoine, |
RCV000491853 | SCV000297816 | pathogenic | Silver-Russell syndrome 1 | no assertion criteria provided | research |