Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000169994 | SCV000329687 | pathogenic | not provided | 2017-06-30 | criteria provided, single submitter | clinical testing | The c.1247_1248delAG pathogenic variant in the CDKL5 gene has been reported previously in an individual with epileptic encephalopathy (Raymond et al., 2013). The c.1247_1248delAG variant causes a frameshift starting with codon Glutamic Acid 416, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Glu416ValfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1247_1248delAG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1247_1248delAG as a pathogenic variant. |
Neurogenetics Laboratory - |
RCV000416945 | SCV000494537 | pathogenic | Epileptic encephalopathy | 2016-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624117 | SCV000740941 | pathogenic | Inborn genetic diseases | 2015-06-09 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000169994 | SCV000222300 | pathogenic | not provided | 2014-03-13 | no assertion criteria provided | curation |