Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579137 | SCV000681078 | pathogenic | not provided | 2017-11-08 | criteria provided, single submitter | clinical testing | The c.2147+1 G>A pathogenic splice site variant in the PCDH19 gene destroys the canonical splice donor site in intron 1. 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.2147+1 G>A variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of aPCDH19-related disorder in this individual. |
Ce |
RCV000579137 | SCV001249607 | pathogenic | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing |