ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.842G>A (p.Arg281Gln)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002711519 SCV003002090 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 281 of the IL6ST protein (p.Arg281Gln). This variant is present in population databases (rs551130374, gnomAD 0.2%). This missense change has been observed in individual(s) with craniosynostosis and retained deciduous teeth. (PMID: 32566365). ClinVar contains an entry for this variant (Variation ID: 1966000). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects IL6ST function (PMID: 32566365). 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.
GeneDx RCV002711519 SCV005078406 uncertain significance not provided 2023-04-24 criteria provided, single submitter clinical testing Observed in apparent homozygous state in a patient with craniosynostosis in the published literature, however, this individuals unaffected mother was also homozygous for this variant (Schwerd et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32566365)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.