ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met) (rs769069833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189196 SCV000242828 uncertain significance not provided 2014-03-04 criteria provided, single submitter clinical testing p.Val613Met (V613M) GTG>ATG: c.1837 G>A in exon 12 of the SCN2A gene (NM_021007.2). The V613M variant in the SCN2A gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V613M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across mammalian species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The variant is found in EPILEPSY panel(s).
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791094 SCV000930366 uncertain significance Early infantile epileptic encephalopathy 11 2019-04-27 criteria provided, single submitter clinical testing

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