Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000241508 | SCV001213929 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg424*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with focal epilepsy (PMID: 27173016). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 254360). For these reasons, this variant has been classified as Pathogenic. |
Equipe Genetique des Anomalies du Developpement, |
RCV000241508 | SCV001994779 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2021-10-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002281079 | SCV002569770 | pathogenic | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | Reported previously in an individual with refractory focal epilepsy (Abumurad et al., 221); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34868250, 34693554, 33461085, 33741238, 30093711, 27173016, 30485578, 36864519, 37099548, 34235417, 36937533) |
OMIM | RCV000241508 | SCV000299385 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2016-09-21 | no assertion criteria provided | literature only |