ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4006G>A (p.Val1336Ile)

dbSNP: rs796053005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188939 SCV000242570 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing This substitution is predicted to be within the intracellular loop between the S4 and S5 transmembrane segments of the third homologous domain.; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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