ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4564_4581dup (p.Leu1522_Pro1527dup)

dbSNP: rs1380309707
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003535896 SCV000937913 uncertain significance Familial adenomatous polyposis 1 2023-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APC-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 644400). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant, c.4564_4581dup, results in the insertion of 6 amino acid(s) of the APC protein (p.Leu1522_Pro1527dup), but otherwise preserves the integrity of the reading frame.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283861 SCV001469305 uncertain significance not provided 2020-05-08 criteria provided, single submitter clinical testing

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