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

gnomAD frequency: 0.00007  dbSNP: rs782727618

Total submissions: 5

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).