Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653299 | SCV000775178 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2020-12-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NPRL3-related conditions. ClinVar contains an entry for this variant (Variation ID: 542798). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln308Hisfs*106) in the NPRL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). |