ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3361G>T (p.Ala1121Ser)

dbSNP: rs2074131194
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
Invitae RCV001070244 SCV001235462 uncertain significance Intellectual disability, X-linked 1 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 1121 of the IQSEC2 protein (p.Ala1121Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with seizures and developmental delay (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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.