ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8341del (p.Arg2780_Val2781insTer)

dbSNP: rs1554089068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003742814 SCV000647767 uncertain significance Familial adenomatous polyposis 1 2017-05-02 criteria provided, single submitter clinical testing In summary, this is a novel truncation with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 2781 (p.Val2781*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 63 amino acids of the APC protein.

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