ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe) (rs1553591763)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
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 Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.