ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1744-6_1744-4delinsAG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822854 SCV000963674 pathogenic Familial adenomatous polyposis 1 2018-12-10 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with familial adenomatous polyposis (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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