ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.421G>A (p.Glu141Lys)

gnomAD frequency: 0.00001  dbSNP: rs387907326
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 RCV001883973 SCV002149607 uncertain significance Inflammatory bowel disease 25 2022-12-02 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1387267). This missense change has been observed in individual(s) with inflammatory bowel disease (PMID: 27350736, 29531467). This variant is present in population databases (rs387907326, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 141 of the IL10RB protein (p.Glu141Lys).
Revvity Omics, Revvity RCV001883973 SCV003813355 uncertain significance Inflammatory bowel disease 25 2021-01-27 criteria provided, single submitter clinical testing

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.