Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653317 | SCV000775196 | pathogenic | Epilepsy, familial focal, with variable foci 3 | 2022-08-26 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 6-7 of the NPRL3 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. 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 affected with NPRL3-related conditions. For these reasons, this variant has been classified as Pathogenic. |