ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1643del (p.Val547_Leu548insTer)

dbSNP: rs1554082091
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003743779 SCV000647191 pathogenic Familial adenomatous polyposis 1 2017-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). This sequence change deletes 1 nucleotide from exon 14 of the APC mRNA (c.1643delT), causing a frameshift at codon 548. This creates a premature translational stop signal (p.Leu548*) and is expected to result in an absent or disrupted protein product.

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