ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.1887_1893del (p.Gly630fs)

dbSNP: rs2139755925
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001682638 SCV001905520 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001682638 SCV003805787 pathogenic not provided 2023-02-17 criteria provided, single submitter clinical testing Reported as an apparently de novo variant in a patient with facial dysmorphisms and delayed language and motor development in published literature, however, the full article was not available for review (Yan et al., 2020); Frameshift variant predicted to result in protein truncation, as the last 265 amino acids are replaced with 90 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32135595)
3billion RCV003314011 SCV004013714 pathogenic Immunodeficiency 49 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. Similarly affected sibling shares the variant (3billion databse) The variant has been previously reported as de novo in a similarly affected individual (PMID: 32135595). The variant has been reported to be associated with BCL11B related disorder (ClinVar ID: VCV001275761 / PMID: 32135595). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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.