ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1970_1971GA[2] (p.Asn659fs) (rs863225322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503906 SCV000591104 pathogenic Familial adenomatous polyposis criteria provided, single submitter clinical testing
Invitae RCV000699866 SCV000828596 pathogenic Familial adenomatous polyposis 1 2018-06-01 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Asn659Glnfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2185 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in two individuals affected with familial adenomatous polyposis (PMID: 10094547, 20685668). This variant is also known as c.1968_1969del in the literature. ClinVar contains an entry for this variant (Variation ID: 433630). Different truncations (p.Ser932*, p.Ala1050Glufs*6, and p.Gln1062*) that lie downstream of this variant have been determined to be pathogenic (PMID: 20685668, 23460355, 15771908). 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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