Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neurogenetics Laboratory - |
RCV000416990 | SCV000494504 | likely pathogenic | Focal epilepsy | 2016-11-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003985327 | SCV004800442 | likely pathogenic | SCN2A-related disorder | 2024-02-19 | criteria provided, single submitter | clinical testing | The SCN2A c.571T>G variant is predicted to result in the amino acid substitution p.Trp191Gly. This variant was reported de novo in an individual with focal epilepsy, drug-resistant (Parrini et al. 2017. PubMed ID: 27864847). This variant has not been reported in a large population database, indicating this variant is rare. An alternate nucleotide change affecting the same amino acid (p.Trp191Cys), has been reported in an individual with SCN2A-associated disease (Su et al. 2018. PubMed ID: 29625812). This variant is interpreted as likely pathogenic. |