ClinVar Miner

Submissions for variant NM_000038.6(APC):c.729+3del (rs780245766)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462481 SCV000552544 uncertain significance Familial adenomatous polyposis 1 2016-05-23 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the APC mRNA. It does not directly change the encoded amino acid sequence of the APC protein. This sequence change affects a highly conserved nucleotide near the donor splice site. This variant is present in population databases (rs780245766, ExAC 0.01%) but has not been reported in the literature in individuals with a APC-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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