ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His)

gnomAD frequency: 0.00007  dbSNP: rs782727618
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720054 SCV000518429 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Invitae RCV001522038 SCV001731499 benign Intellectual disability, X-linked 1 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436259 SCV002749483 uncertain significance Inborn genetic diseases 2019-06-07 criteria provided, single submitter clinical testing The p.R939H variant (also known as c.2816G>A), located in coding exon 9 of the IQSEC2 gene, results from a G to A substitution at nucleotide position 2816. The arginine at codon 939 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001522038 SCV003815656 uncertain significance Intellectual disability, X-linked 1 2021-03-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912649 SCV004732868 likely benign IQSEC2-related disorder 2023-04-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.