ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2795C>G (p.Ser932Ter) (rs878853432)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225787 SCV000282726 pathogenic Familial adenomatous polyposis 1 2016-02-01 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 932 (p.Ser932*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated APC protein by eliminating 1911 aa (~65%) from the protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in patients with familial adenomatous polypsis (FAP) (PMID: 1338764, 20685668,10083733). A different truncating variant at the same position was found in an individual with FAP (PMID: 1316610). For these reasons, this variant has been classified as Pathogenic.

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