ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)

dbSNP: rs2074117985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001347361 SCV001541619 uncertain significance Intellectual disability, X-linked 1 2022-02-05 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IQSEC2 protein function. ClinVar contains an entry for this variant (Variation ID: 1043276). This missense change has been observed in individual(s) with X-linked intellectual disability (PMID: 30206421). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1155 of the IQSEC2 protein (p.Arg1155Trp). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420264 SCV001622684 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM2_supporting;PM6_moderate;PP2_supporting;PP3_supporting
GeneDx RCV001571476 SCV001795960 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing Observed in the hemizygous state in two affected males from one family with intellectual disability (PMID: 30206421); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36902414, 30206421)

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