Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001388160 | SCV001589031 | pathogenic | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2020-09-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1397Thrfs*7) in the RELN gene. It is expected to result in an absent or disrupted protein product. 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). |