ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.1534C>T (p.Arg512Trp)

dbSNP: rs765491561
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001968845 SCV002249591 uncertain significance Herpes simplex encephalitis, susceptibility to, 4 2021-07-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs765491561, ExAC 0.002%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with TICAM1-related conditions. This sequence change replaces arginine with tryptophan at codon 512 of the TICAM1 protein (p.Arg512Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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.