ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4404_4418delinsC (p.Lys1468fs) (rs1064792980)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463527 SCV000552756 pathogenic Familial adenomatous polyposis 1 2016-09-12 criteria provided, single submitter clinical testing This sequence change deletes 18 nucleotide and inserts 1 nucleotide in exon 16 of the APC mRNA (c.4404_4418delinsC), causing a frameshift at codon 1348. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Gln1469Cysfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein by eliminating over 1400 amino acid residues (~50%) from the full length protein. . While this particular variant has not been reported in the literature, truncating variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic.

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