ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val)

dbSNP: rs764507532
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824524 SCV000965424 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-08-31 criteria provided, single submitter clinical testing
GeneDx RCV003226985 SCV003923841 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing 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 within the extracellular loop between the S5 and S6 transmembrane segments of the third homologous domain.

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