ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)

dbSNP: rs886041481
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 RCV000401090 SCV000330141 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30206421, 25356970, 26795593, 28815955, 29100083)
Invitae RCV000794024 SCV000933406 pathogenic Intellectual disability, X-linked 1 2018-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr269Thrfs*3) in the IQSEC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with seizures and intellectual disability (PMID: 28815955). ClinVar contains an entry for this variant (Variation ID: 280241). Loss-of-function variants in IQSEC2 are known to be pathogenic (PMID: 21686261, 26793055, 27665735). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001266295 SCV001444468 pathogenic Inborn genetic diseases 2016-06-27 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000794024 SCV002061572 pathogenic Intellectual disability, X-linked 1 2021-09-07 criteria provided, single submitter clinical testing PVS1, PS4, PM2, PM6
Laboratory of Molecular Genetics, CHU Rennes RCV000414905 SCV000493075 likely pathogenic Severe intellectual deficiency no assertion criteria provided clinical testing

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.