Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810684 | SCV000950911 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2020-02-04 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 8-9 of the NPRL3 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NPRL3-related conditions. Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). For these reasons, this variant has been classified as Pathogenic. |