Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217351 | SCV001389187 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2019-10-03 | criteria provided, single submitter | clinical testing | Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). This variant has not been reported in the literature in individuals with NPRL3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly215Alafs*2) in the NPRL3 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |