ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5434T>A (p.Phe1812Ile) (rs796053164)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189178 SCV000242810 uncertain significance not provided 2013-10-10 criteria provided, single submitter clinical testing p.Phe1812Ile (TTT>ATT): c.5434 T>A in exon 27 of the SCN2A gene (NM_021007.2). The Phe1812Ile 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 conservative substitution of one uncharged, non-polar amino acid for another. In silico analysis predicts this variant is probably damaging to the protein structure/function. It alters a conserved position in the C-terminus of the protein, however very few mutations have been reported in this region of the gene. Therefore, based on the currently available information, it is unclear whether Phe1812Ile is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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.