ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)

gnomAD frequency: 0.00029  dbSNP: rs148348158
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001331826 SCV000830158 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-02-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 648 of the BUB1B protein (p.Thr648Ile). This variant is present in population databases (rs148348158, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 578374). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV001331826 SCV001523953 uncertain significance Mosaic variegated aneuploidy syndrome 1 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002477614 SCV002793427 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2024-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533619 SCV003756948 uncertain significance Inborn genetic diseases 2021-07-28 criteria provided, single submitter clinical testing The c.1943C>T (p.T648I) alteration is located in exon 15 (coding exon 15) of the BUB1B gene. This alteration results from a C to T substitution at nucleotide position 1943, causing the threonine (T) at amino acid position 648 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692168 SCV005193703 uncertain significance not provided criteria provided, single submitter not provided

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.