Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144797 | SCV000191021 | pathogenic | not provided | 2013-07-16 | criteria provided, single submitter | clinical testing | The c.2608_2609insT (aka c.2608dupT) mutation in the CDKL5 gene causes a frameshift starting with codon Serine 870, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Ser870PhefsX40. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in INFANT-EPI panel(s). |