ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1397C>T (p.Ala466Val)

dbSNP: rs796053185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189213 SCV000242845 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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

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