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
Invitae RCV001857646 SCV002133671 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399702 SCV002707905 uncertain significance Inborn genetic diseases 2017-10-20 criteria provided, single submitter clinical testing The p.R535H variant (also known as c.1604G>A), located in coding exon 10 of the SCN1A gene, results from a G to A substitution at nucleotide position 1604. The arginine at codon 535 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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