Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187909 | SCV000241511 | pathogenic | not provided | 2014-02-25 | criteria provided, single submitter | clinical testing | c.1764-1 G>C: IVS15-1 G>C in intron 15 of the KCNQ2 gene (NM_172107.2) The c.1764-1 G>C splice site mutation in the KCNQ2 gene destroys the canonical splice acceptor site in intron 15. 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. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of a KCNQ2-related disorder. The variant is found in INFANT-EPI panel(s). |