ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1846A>G (p.Arg616Gly)

gnomAD frequency: 0.00001  dbSNP: rs772896106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658405 SCV000780177 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing Not observed at a 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 within the N terminal cytoplasmic topological domain; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001222393 SCV001394490 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-12-06 criteria provided, single submitter clinical testing

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