ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2939_2941del (p.Lys980_Pro981delinsThr) (rs772573597)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554620 SCV000647283 uncertain significance Familial adenomatous polyposis 1 2017-05-17 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 16 of the APC mRNA (c.2939_2941delAAC). This leads to the deletion of 2 amino acid residues and the insertion of 1 unrelated amino acid in the APC protein (p.Lys980_Pro981delinsThr) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772573597, ExAC 0.009%) but 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 and inserted amino acids is currently unknown. In summary, this is a rare complex change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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