ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)

dbSNP: rs1580817729
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269995 SCV001450402 pathogenic not provided 2018-10-24 criteria provided, single submitter clinical testing
GeneDx RCV001269995 SCV002540528 pathogenic not provided 2022-01-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Functional studies demonstrate a damaging effect on GP130-dependant activation of STAT3 (Chen et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31130284, 33726816, 31914175)
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000984613 SCV000925665 pathogenic Stuve-Wiedemann syndrome 2019-06-24 no assertion criteria provided clinical testing This homozygous nonsense variant was found in two siblings. One termination of pregnancy and an affected sister deceased two days after birth. Parents are heterozygous carriers. Functional studies shows that this Arg281* variant disrupts normal protein function. In summary, the Arg281* variant meets our criteria to be classified as pathogenic.
OMIM RCV001836880 SCV002097633 pathogenic Stuve-Wiedemann syndrome 2 2022-02-16 no assertion criteria provided literature only

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.