ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3977T>A (p.Val1326Asp) (rs796053131)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189144 SCV000242776 pathogenic not provided 2012-12-20 criteria provided, single submitter clinical testing p.Val1326Asp (GTT>GAT): c.3977 T>A in exon 22 of the SCN2A gene (NM_021007.2). The Val1326Asp missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Val1326Asp in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as an uncharged, non-polar Valine residue is replaced by a negatively charged Aspartic acid residue. It alters a highly conserved position in the intracellular loop between the 4th and 5th segments of the third transmembrane domain, and other missense mutations in this region have been reported in association with benign familial neonatal-infantile seizures (Shi et al., 2011). This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).

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