ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln)

gnomAD frequency: 0.00005  dbSNP: rs782420335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608985 SCV000732365 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002317375 SCV000850684 uncertain significance Inborn genetic diseases 2017-05-25 criteria provided, single submitter clinical testing The p.R542Q variant (also known as c.1625G>A), located in coding exon 5 of the IQSEC2 gene, results from a G to A substitution at nucleotide position 1625. The arginine at codon 542 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other 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.
Invitae RCV001517213 SCV001725664 benign Intellectual disability, X-linked 1 2023-12-13 criteria provided, single submitter clinical testing

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