ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3401del (p.Lys1134fs) (rs796053192)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189230 SCV000242862 pathogenic not provided 2014-06-18 criteria provided, single submitter clinical testing c.3401delA: p.Lys1134SerfsX2 (K1134SfsX2) in exon 18 of the SCN2A gene (NM_021007.2). Using uppercase to denote exonic nucleotides and lower case to denote intronic nucleotides, the normal sequence with the bases that are deleted in braces is: cagA{A}GCTA. The c.3401delA mutation in the SCN2A gene causes a frameshift starting with codon Lysine 1134, changes this amino acid to a Serine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Lys1134SerfsX2. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).

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