ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1538_1539dup (p.Ala514Ter)

dbSNP: rs1554081762
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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 RCV004561504 SCV000647183 pathogenic Familial adenomatous polyposis 1 2022-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala514*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 469711). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004561504 SCV004044749 pathogenic Familial adenomatous polyposis 1 2023-05-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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