ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe)

dbSNP: rs1553591763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497729 SCV000589732 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN2A gene. The L1242F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L1242F variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1242F 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 alters a conserved position predicted to be within the transmembrane segment S2 of the third homologous domain. Additionally, 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 this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics RCV000623062 SCV000741583 uncertain significance Inborn genetic diseases 2016-06-09 criteria provided, single submitter clinical testing

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