Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000133371 | SCV000190956 | pathogenic | not provided | 2017-03-03 | criteria provided, single submitter | clinical testing | The c.513 C>A variant, resulting in the Y171X nonsense variant in the CDKL5 gene, has beenreported previously as a de novo finding in a male with early-onset epilepsy (Mirzaa et al., 2013).This variant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al.,2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, a differentnucleotide substitution (c.513 C>G) that also results in the Y171X nonsense variant was previouslyidentified in a female with features of a CDKL5-related disorder (Sartori et al., 2011). We interpretY171X as a pathogenic variant. |
Genetic Services Laboratory, |
RCV000145541 | SCV000192633 | pathogenic | Early infantile epileptic encephalopathy 2 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000145541 | SCV000188385 | pathogenic | Early infantile epileptic encephalopathy 2 | 2014-03-13 | no assertion criteria provided | curation | Early truncation, partial loss the phophorylation site |