ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4796C>G (p.Ser1599Ter) (rs1554086212)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546286 SCV000647537 pathogenic Familial adenomatous polyposis 1 2017-03-01 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 1599 (p.Ser1599*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated APC protein by eliminating 1245 amino acid residues (~44%) from the full length protein. 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). For these reasons, this variant has been classified as Pathogenic.

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