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

dbSNP: rs886041481

Total submissions: 5

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