ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)

gnomAD frequency: 0.00004  dbSNP: rs184524479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188874 SCV000242504 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Substitution is predicted to be in the cytoplasmic loop between the first and second homologous domains; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31780880)
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585879 SCV000693813 uncertain significance Severe myoclonic epilepsy in infancy 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857646 SCV002133671 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399702 SCV002707905 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing Fernández-Marmiesse, 2019 Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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