ClinVar Miner

Submissions for variant NM_000038.6(APC):c.989del (p.Met330fs)

dbSNP: rs1561540666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002532250 SCV000822493 pathogenic Familial adenomatous polyposis 1 2020-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met330Serfs*6) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with adenomatous polyposis (PMID: 20685668). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV002532250 SCV004044914 pathogenic Familial adenomatous polyposis 1 2023-04-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355984 SCV001551026 uncertain significance not provided no assertion criteria provided clinical testing

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