ClinVar Miner

Submissions for variant NC_000015.9:g.(?_32964740)_(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 RCV000534493 SCV000657478 uncertain significance Familial colorectal cancer 2022-07-18 criteria provided, single submitter clinical testing 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. 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. A copy number gain of the genomic region encompassing the full coding sequence of the GREM1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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