Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312260 | SCV000845907 | pathogenic | Inborn genetic diseases | 2016-05-27 | criteria provided, single submitter | clinical testing | The c.666delT pathogenic mutation, located in coding exon 8 of the CDKL5 gene, results from a deletion of one nucleotide at position 666, causing a translational frameshift with a predicted alternate stop codon (p.I223FFS*5). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |