ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4456_4458del (p.Asp1486del) (rs761504791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410631 SCV000487781 uncertain significance Familial adenomatous polyposis 1 2015-11-21 criteria provided, single submitter clinical testing
Invitae RCV000410631 SCV000552780 uncertain significance Familial adenomatous polyposis 1 2018-09-11 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 16 of the APC mRNA (c.4456_4458delGAT). This leads to the deletion of 1 amino acid residue(s) in the APC protein (p.Asp1486del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs761504791, ExAC 0.009%) but has not been reported in the literature in individuals with a APC-related disease. In summary, this is a rare in-frame deletion with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000580184 SCV000681667 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-25 criteria provided, single submitter clinical testing

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