ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.708del (p.Ile237fs) (rs796053198)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189236 SCV000242868 pathogenic not provided 2014-05-23 criteria provided, single submitter clinical testing c.708delC: p.Ile237LeufsX5 in exon 7 in the SCN2A gene (NM_021007.2). The normal sequence with the base(s) that are deleted in braces is: AGAC{C}ATTG. c.708delC mutation in the SCN2A gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.708delC mutation causes a frameshift starting with codon Isoleucine 237, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ile237LeufsX5. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.708delC mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.708delC as a disease-causing mutation. This variant has been observed de novo without verified parentage. The variant is found in SCN2A panel(s).

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