ClinVar Miner

Submissions for variant NC_000015.9:g.(?_32964740)_(33023456_?)dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000708001 SCV000837111 uncertain significance Familial colorectal cancer 2022-08-16 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the promoter of the GREM1 gene. The precise boundaries of this event are unknown. Two different tandem duplications (40 kb and 16 kb) spanning the 3' end of the SCG5 gene and the region upstream of the GREM1 gene have been reported in families with hereditary mixed polyposis syndrome (PMID: 22561515, 25992589, 26493165). However, the gain identified in this individual is different from those variants, and therefore the impact of the additional duplicated sequences on GREM1 expression and function has not been established. 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.

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.