ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.890A>G (p.Asn297Ser)

dbSNP: rs796053174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189198 SCV000242830 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the extracellular loop between the S5 and S6 transmembrane segments of the first homologous domain.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 24077912)
Labcorp Genetics (formerly Invitae), Labcorp RCV001857652 SCV002290901 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-09-01 criteria provided, single submitter clinical testing

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