ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4303C>G (p.Arg1435Gly)

dbSNP: rs796053138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189151 SCV000242783 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing p.Arg1435Gly (CGA>GGA): c.4303 C>G in exon 23 of the SCN2A gene (NM_021007.2). The Arg1435Gly missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a positively charged Arginine residue with an uncharged, non-polar Glycine residue. It alters a position in the loop between the S5 and S6 segments of the third transmembrane domain that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether Arg1435Gly is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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