ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His)

gnomAD frequency: 0.00002  dbSNP: rs150040573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500744 SCV000596969 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing
Invitae RCV001372784 SCV001569469 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001557536 SCV001779310 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Predicted to be in the cytoplasmic loop between the first and second homologous domains; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001557536 SCV004147128 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing SCN2A: PP2

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