Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188351 | SCV000241963 | pathogenic | not provided | 2013-10-08 | criteria provided, single submitter | clinical testing | This variant is denoted p.Ser158Stop (TCA>TGA): c.473 C>G in exon 1 of the PCDH19 gene (NM_001105243.1). The Ser158Stop nonsense mutation in the PCDH19 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of a PCDH19-related disorder. The variant is found in EPILEPSY panel(s). |