ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3215A>G (p.Asp1072Gly)

dbSNP: rs1553540263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636435 SCV000757874 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-09-30 criteria provided, single submitter clinical testing
GeneDx RCV005241383 SCV005889195 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the cytoplasmic loop between the second and third homologous domains; Has not been previously published as pathogenic or benign to our knowledge

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