Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228243 | SCV001400633 | pathogenic | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2019-09-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RELN are known to be pathogenic (PMID: 10973257, 26046367, 28454995). This variant has not been reported in the literature in individuals with RELN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2068Metfs*56) in the RELN gene. It is expected to result in an absent or disrupted protein product. |