Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522399 | SCV000617109 | pathogenic | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | The c.1597+2T>A variant in the SOX5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 12. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1597+2T>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1597+2T>A as a pathogenic variant. |
Institute for Human Genetics, |
RCV000857296 | SCV000999890 | pathogenic | Lamb-Shaffer syndrome | 2019-08-05 | no assertion criteria provided | clinical testing |