ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4264_4269del (p.Asp1422_Leu1423del) (rs1554085690)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540481 SCV000647508 uncertain significance Familial adenomatous polyposis 1 2017-05-31 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 16 of the APC mRNA (c.4264_4269delGATCTT). This leads to the deletion of 2 amino acid residue(s) in the APC protein (p.Asp1422_Leu1423del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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