ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5917del (p.Ser1973fs) (rs878853458)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229708 SCV000282787 pathogenic Familial adenomatous polyposis 1 2016-01-18 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.5917delA), causing a frameshift at codon 1973. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ser1973Valfs*71). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated APC protein by eliminating ~870 amino acid residues (~31%) from the full length protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in an individual suspected of having familial adenomatous polyposis (PMID: 20223039). For these reasons, this variant has been classified as Pathogenic.

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