ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly)

dbSNP: rs1057519525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000416990 SCV000494504 likely pathogenic Focal epilepsy 2016-11-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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.

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