Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187878 | SCV000241478 | pathogenic | not provided | 2014-05-08 | criteria provided, single submitter | clinical testing | Trp270Stop (TGG>TAG): c.809 G>A in exon 5 of the KCNQ2 gene (NM_172107.2) The W270X nonsense mutation in the KCNQ2 gene is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated decay. A nearby nonsense mutation, W269X, is reported in association with benign infantile epilepsy. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of a KCNQ2-related disorder. The variant is found in EPILEPSY panel(s). |