ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8303_8306del (p.Ser2768fs)

dbSNP: rs1554089054
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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 RCV002530422 SCV000768286 uncertain significance Familial adenomatous polyposis 1 2017-11-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change results in a premature translational stop signal in the APC gene (p.Ser2768Asnfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown.

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