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
Labcorp Genetics (formerly Invitae), Labcorp RCV004569039 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 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. 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.

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