ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6583_6587delinsAT (p.Tyr2195_Lys2196delinsIle) (rs1554087551)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646400 SCV000768169 uncertain significance Familial adenomatous polyposis 1 2017-12-10 criteria provided, single submitter clinical testing This variant, c.6583_6587delinsAT, is a complex sequence change that results in the deletion of two amino acids and the insertion of one amino acid of the APC protein (p.Tyr2195_Lys2196delinsIle). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.

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