ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1511G>C (p.Arg504Thr)

dbSNP: rs2105851522
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443398 SCV004168349 uncertain significance not provided 2023-05-01 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 has a deleterious effect on protein structure/function; This substitution is predicted to be in the cytoplasmic loop between the first and second homologous domains.; Has not been previously published as pathogenic or benign to our knowledge

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