ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3530G>A (p.Arg1177Gln)

gnomAD frequency: 0.00001  dbSNP: rs773202451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369282 SCV001565716 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001820072 SCV002064131 uncertain significance not provided 2022-01-07 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 does not alter 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 second and third homologous domains
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004762131 SCV005373999 uncertain significance Episodic ataxia, type 9 2024-09-22 criteria provided, single submitter clinical testing

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