ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr)

dbSNP: rs2138828935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769646 SCV002004530 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be in the cytoplasmic loop between the first and second homologous domains
MGZ Medical Genetics Center RCV002290757 SCV002581537 uncertain significance Developmental and epileptic encephalopathy, 13 2022-04-07 criteria provided, single submitter clinical testing

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