ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser)

dbSNP: rs905574009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523519 SCV000619493 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing 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; 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; This variant is associated with the following publications: (PMID: 30653559)
Invitae RCV000696248 SCV000824800 benign Early infantile epileptic encephalopathy with suppression bursts 2023-10-13 criteria provided, single submitter clinical testing

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