ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu)

gnomAD frequency: 0.00002  dbSNP: rs1358776988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519145 SCV000619173 uncertain significance not provided 2021-12-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are 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 within the C-terminal cytoplasmic domain
Invitae RCV001497480 SCV001702209 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-10-21 criteria provided, single submitter clinical testing

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