ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6610C>T (p.Arg2204Ter) (rs752654519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230421 SCV000282799 pathogenic Familial adenomatous polyposis 1 2018-06-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Arg2204*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 640 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. ClinVar contains an entry for this variant (Variation ID: 236632). 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. A different truncation, c.7932_7935del (p.Tyr2645Lysfs*14), that lies downstream of this variant has been determined to be pathogenic (PMID: 9824584, 1316610, 27081525, 8381579, 22135120, Invitae). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508240 SCV000600133 likely pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing

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