ClinVar Miner

Submissions for variant NC_000005.10:g.(?_112834945)_(112835171_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646699 SCV000768475 pathogenic Familial adenomatous polyposis 1 2017-10-05 criteria provided, single submitter clinical testing This sequence change is an out-of-frame deletion of exon 15 that results in a premature translational stop signal in the last exon of the APC gene (p.Glu582Alafs*20). While this variant may escape nonsense mediate decay, it is expected to delete approximately 80% of the APC protein. This variant has not been reported in the literature in individuals with APC-related disease. Loss-of-function variants in APC are known to be pathogenic. Several truncating variants downstream of this variant have been determined to be pathogenic (PMID: 20223039, 11247896, 1316610). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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