ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2097G>A (p.Trp699Ter) (rs1060503282)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476645 SCV000552523 pathogenic Familial adenomatous polyposis 1 2016-11-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 699 (p.Trp699*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated APC protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in an individual with familial adenomatous polyposis (PMID: 8544194). The same protein change caused by a different nucleotide substitution was also observed in an individual with familial adenomatous polyposis (PMID: 10083733). This variant is located in the last coding exon of APC. However, other downstream, pathogenic truncating variants have been reported in exon 16 (PMID: 20223039, 11247896, 1316610). For these reasons, this variant has been classified as Pathogenic.

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