ClinVar Miner

Submissions for variant NC_000015.9:g.(?_32988695)_(33004759_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653702 SCV000775585 uncertain significance Familial colorectal cancer 2019-06-06 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 variant identified in this individual occurs further upstream of those variants, and the impact of the this duplicated sequence on GREM1 expression and function has not been established. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change is currently unknown. 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.

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