ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2539T>C (p.Ser847Pro)

dbSNP: rs1699366480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064072 SCV001228948 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-09-02 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003396708 SCV004118690 likely pathogenic SCN2A-related condition 2022-09-29 criteria provided, single submitter clinical testing The SCN2A c.2539T>C variant is predicted to result in the amino acid substitution p.Ser847Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been confirmed de novo in an individual with infantile-onset seizures (Internal Data, PreventionGenetics, LCC). This variant is interpreted as likely pathogenic.

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