ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4906del (p.Asp1636fs)

dbSNP: rs1554086285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002564372 SCV002229740 pathogenic Familial adenomatous polyposis 1 2021-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1636Metfs*14) in the APC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1208 amino acid(s) of the APC protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with attenuated familial adenomatous polyposis (PMID: 17489848). 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. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV002564372 SCV004044783 pathogenic Familial adenomatous polyposis 1 2023-05-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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