ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.1552+3A>C

dbSNP: rs1580801563
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787961 SCV000926984 uncertain significance GP130-deficient hyper-IgE syndrome 2019-01-23 criteria provided, single submitter clinical testing
Invitae RCV002535763 SCV003313070 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 12, but is expected to preserve the integrity of the reading-frame (PMID: 33771552). ClinVar contains an entry for this variant (Variation ID: 636253). This variant has been observed in individual(s) with hyper-IgE syndrome (PMID: 33771552). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 12 of the IL6ST gene. It does not directly change the encoded amino acid sequence of the IL6ST protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
OMIM RCV001838639 SCV002098413 pathogenic Hyper-IgE recurrent infection syndrome 4, autosomal recessive 2023-10-05 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.