ClinVar Miner

Submissions for variant NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) (rs28989181)

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
Invitae RCV001036795 SCV001200178 uncertain significance Mosaic variegated aneuploidy syndrome 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 844 of the BUB1B protein (p.Leu844Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs28989181, ExAC 0.002%). This variant has been reported in an individual affected with mosaic variegated aneuploidy (MVA) and embryonal rhabdomyosarcoma of the soft palate (PMID: 15475955, 18548531, 9916837). ClinVar contains an entry for this variant (Variation ID: 6761). This variant has been reported to affect BUB1B protein function (PMID: 20516114). 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.
OMIM RCV000007154 SCV000027350 pathogenic Mosaic variegated aneuploidy syndrome 1 2004-11-01 no assertion criteria provided literature only
OMIM RCV000007155 SCV000027351 affects Premature chromatid separation trait 2004-11-01 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.