Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989406 | SCV001139726 | likely pathogenic | Epilepsy, familial focal, with variable foci 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000989406 | SCV002228288 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2021-04-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln101*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with NPRL3-related conditions (PMID: 30093711). ClinVar contains an entry for this variant (Variation ID: 803143). This variant is not present in population databases (ExAC no frequency). |