Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144781 | SCV000191005 | pathogenic | not provided | 2013-01-11 | criteria provided, single submitter | clinical testing | The c.282+4delA mutation results in the deletion of a single "A" nucleotide at the exon 5/intron 5 splice junction. This mutation is predicted to destroy the natural splice donor site in intron 5 and is expected 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 variant is found in EPILEPSY panel(s). |