ClinVar Miner

Submissions for variant NM_000038.6(APC):c.424_531+69dup (rs1561477658)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691575 SCV000819361 likely pathogenic Familial adenomatous polyposis 1 2018-08-22 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 5 of the APC gene (c.424_531+69dup). While the exact position of the duplicated exon cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679). This duplication would be expected to be in-frame, preserving the integrity of the reading frame. A similar duplication of exon 5 has been reported in a family affected with familial adenomatous polyposis (PMID: 16736293). This variant is also known as a duplication of exon 4 in the literature. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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