ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4474_4476GAA[1] (p.Glu1493del) (rs796053194)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189232 SCV000242864 pathogenic not provided 2013-11-06 criteria provided, single submitter clinical testing c.4477_4479delGAA: p.Glu1493del (E1493del) in exon 25 of the SCN2A gene (NM_021007.2). The normal sequence with the bases that are deleted in braces is: AGAA[GAA]CAGA.The Glu1493del variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single conserved amino acid reside (Glu1493) in the cytoplasmic loop between the third and fourth transmembrane domains of the protein, and a missense mutation in this region of the protein has been reported in association with intractable epilepsy (Shi et al., 2011). This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).

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