ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2877T>A (p.Cys959Ter)

dbSNP: rs775214722
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188901 SCV000242531 pathogenic not provided 2013-04-09 criteria provided, single submitter clinical testing p.Cys959Stop (TGT>TGA): c.2877 T>A in exon 15 of the SCN1A gene (NM_001165963.1) The Cys959Stop nonsense mutation in the SCN1A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Multiple other nonsense mutations have been published in patients with SCN1A-related disorders. The variant is found in EPILEPSY panel(s).

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