ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)

gnomAD frequency: 0.00001  dbSNP: rs1300877733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034250 SCV001197582 likely benign Intellectual disability, X-linked 1 2023-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337078 SCV002619017 uncertain significance Inborn genetic diseases 2018-04-11 criteria provided, single submitter clinical testing The p.R1175C variant (also known as c.3523C>T), located in coding exon 15 of the IQSEC2 gene, results from a C to T substitution at nucleotide position 3523. The arginine at codon 1175 is replaced by cysteine, an amino acid with highly dissimilar 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 variant remains unclear.
Revvity Omics, Revvity RCV001034250 SCV003815649 uncertain significance Intellectual disability, X-linked 1 2020-06-02 criteria provided, single submitter clinical testing

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