Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188372 | SCV000241984 | pathogenic | not provided | 2014-01-28 | criteria provided, single submitter | clinical testing | This variant is denoted p.Ser542Stop (TCA>TGA): c.1625 C>G in exon 1 of the PCDH19 gene (NM_001105243.1). The Ser542Stop 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). |