ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1055T>C (p.Ile352Thr) (rs796053176)

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 RCV000189202 SCV000242834 uncertain significance not provided 2013-06-24 criteria provided, single submitter clinical testing The Ile352Thr 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. Ile352Thr is a non-conservative amino acid substitution as a non-polar Isoleucine residue is replaced with a polar Threonine residue. It alters a poorly conserved position in the loop between the S5 and S6 segments of the first transmembrane domain. In silico algorithms are not consistent in their predictions of whether or nor Ile352Thr is damaging to the structure/function of the SCN2A protein. Some individuals with SCN2A mutations have been reported to be unaffected due to incomplete penetrance (Berkovic et al., 2004). Additionally, there is evidence that the presence of variants in other ion channel proteins may influence the phenotype (Klassen et al., 2011). 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.