ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.5113T>C (p.Cys1705Arg) (rs121917926)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188987 SCV000242618 pathogenic not provided 2014-08-04 criteria provided, single submitter clinical testing p.Cys1716Arg (TGC>CGC): c.5146 T>C in exon 26 of the SCN1A gene (NM_001165963.1) The C1716R missense mutation in the SCN1A gene has been reported as a de novo mutation in a patient with severe myoclonic epilepsy of infancy boarderline (SMEB) (Marini et al., 2007). This substitution occurs at a conserved position in the extracellular loop between the S5 and S6 transmembrane segments of the 4th homologous domain. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the currently available information, C17176R is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).
UniProtKB/Swiss-Prot RCV000059440 SCV000090964 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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