ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3211_3212del (p.Gln1071fs)

dbSNP: rs1580632599
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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 RCV004561845 SCV000935573 pathogenic Familial adenomatous polyposis 1 2018-09-26 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Gln1071Lysfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1773 amino acids of the APC protein. This variant has been observed in an individual undergoing testing for familial adenomatous polyposis (FAP) (PMID: 23159591) For these reasons, this variant has been classified as Pathogenic. Other variant(s) that disrupt this region (p.Tyr2645Lysfs*14) have been determined to be pathogenic (PMID: 9824584, 1316610, 27081525, 8381579, 22135120, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant is expected to disrupt the EB1 and HDLG binding sites, which mediate interactions with the cytoskeleton (PMID: 15311282, 17293347). While functional studies have not been performed to directly test the effect on APC protein function, this suggests that disruption of the C-terminal portion of the protein is functionally important. This variant is not present in population databases (ExAC no frequency).

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